Research progress of genetic testing in male infertility / 中华检验医学杂志

About 15% of the world's population at child-bearing age suffer from infertility. After cancer and cardiovascular and cerebrovascular diseases, the infertility will become the third-largest intractable disease. Among the causes of infertility, male factors account for about half. As a main male factor, genetic factor has become the focus of reproductive research in recent years. Therefore, to formulate a corresponding diagnosis and treatment scheme for male infertility, accurate genetic testing is needed. It is an effective means to meet the demand of high fertility and solve the problem of population decline in current society.

Karyomorphological Studies of Kangayam, Pulikulam, Crossbred Jersey and Crossbred Holstein Friesian Bulls

The present study was carried out in four genetic groups of cattle, viz. Kangayam, Pulikulam, crossbred Jersey and crossbred Holstein Friesian, to compare the karyomorphological pattern between Bos indicus and Bos taurus x indicus bull calves. Metaphase chromosomal spreads obtained by short term lymphocyte culture technique revealed chromosomal complement (2n) of 60, with 29 pairs of autosomes and one pair of sex chromosomes in four groups. All the autosomes were acrocentric, X-chromosome was sub-metacentric and Y-chromosome was acrocentric in Bos indicus and metacentric in crossbred bulls. There was no significant difference in relative length, arm ratio, centromeric index and morphological index of autosomes and X-chromosome between indicine and taurine groups; but Y-chromosome differed significantly (P˂0.01) in relative length between Bos indicus and Bos taurus x indicus crosses. Y-chromosome polymorphism could help in the determination of breed origin and male lines used in the breeding programmes in order to prevent the possible interferences in the process of reproduction

Ascertaining the paternal lineage in crossbred calves

Karyotyping is one among the culling parameter used for taking up culling decisions. Cytogenetic screening of breeding bulls has been recommended to screen for chromosomal abnormalities before semen production in artificial insemination. The chromosomal analysis of a Holstein Friesian crossbred bull revealed the presence of acrocentric Y-chromosome, which was further confirmed by CBGbanding. The shape of the Y-chromosome determining that male line used for crossbreeding was from indigenous origin. Karyotyping is a best and reliable technique for the identification of crossbred calves born to the indigenous bulls.

Single molecule sequencing of nucleic acids in real time (SMRT) to characterize transcriptomes and mRNA isoforms / Secuenciación de moléculas individuales de ácidos nucleicos en tiempo real (SMRT) para caracterizar transcriptomas e isoformas de ARNm

Abstract Our efforts are oriented to assess bovine Y-chromosome gene expression patterns. One set of genes that are of interest are the so-called X-degenerate Y-chromosome genes that are located in the male-specific region of the Y-chromosome (MSY). This region contains 95% of the DNA of the Y chromosome. These genes are single copy and have an X-chromosome homolog. Both, the Y-encoded and X-encoded homologs have ubiquitous expression profiles. However, some genes, like SRY that regulates male sex determination, have functions that are more specific. Identifying DNA sequence differences between these homologs will allow evaluation of their spatial and temporal expression patterns. Identification of the Y-encoded mRNAs and their isoforms will allow our understanding of tissue specific expression of isoforms in male tissues. The latter will facilitate our evaluation of gene function in male sex differentiation and fertility. Hence, we hypothesized that each of these X-degenerate gene homologs generate isoforms and that differential expression patterns exist between sexes and across tissues. To investigate the latter we used a new generation sequencing (NGS) technology that generates long sequencing reads with a range between 1000 to 10,000 base pairs in length. Single molecule real time (SMRT) isoform sequencing (IsoSeq) of several tissues (liver, lung, adipose, muscle, hypothalamus and testis) was carried out. Transcript sequences were used for bioinformatics analysis and isoform characterization. Given the focus of this manuscript the SMRT technology we are only presenting results obtained with the analysis of the bUTY and bUTX genes.

Resumen Nuestros esfuerzos están orientados a evaluar patrones de expresión génica del cromosoma Y bovino. Los genes de interés son los denominados genes X-degenerados que se encuentran en la región específica masculina del cromosoma Y (MSY). Esta región contiene el 95% del ADN del cromosoma Y. Estos genes son de copia única y tienen un homólogo en el cromosoma X. Ambos homólogos tienen perfiles amplios de expresión. Sin embargo, algunos genes, como el SRY que regula la determinación del sexo masculino, tienen funciones más específicas. La identificación de las diferencias de secuencia de ADN entre estos homólogos permitirá evaluar sus patrones de expresión espacial y temporal. La identificación de los ARNm codificados en el cromosoma Y y de sus isoformas permitirán analizar la expresión específica de sus isoformas en tejidos masculinos. Esto último facilitará nuestra evaluación de función génica en la diferenciación sexual masculina y la fertilidad. Por lo tanto, planteamos la hipótesis de que cada uno de estos genes homólogos degenerados del X genera isoformas y que existen patrones de expresión diferencial entre sexos y tejidos. Para investigar esto último, utilizamos una tecnología de secuenciación de nueva generación (NGS) que genera lecturas de secuenciación largas con un rango de longitud de 1000 a 10,000 pares de bases. Se secuenciaron los transcriptomas en varios tejidos (hígado, pulmón, adiposo, muscular, hipotálamo y testículo). Se utilizaron las secuencias generadas para el análisis bioinformático y la caracterización de isoformas. Siendo el foco de este manuscrito la tecnología SMRT, solo presentamos los resultados obtenidos con el análisis de los genes bUTY y bUTX.

Y-chromosomal STR variation in Kurds and Arabs population in Iraqi Kurdistan

Background: The Iraqi Kurdistan local population involves more than eight gatherings of tenants. The Muslim Kurds make up most of the population and after that the Yezidi Kurds. Alternate gatherings incorporate Armenians, Assyrian, Chaldea, Syriacs, and little minority of Arab and Turkmen individuals.Methods: A total of 36 unrelated males from the two population groups in Iraqi Kurdistan: Kurds and Arabs were analyzed for eight Y-chromosome STRs (DYS19, DYS392, DYS437, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4). Total DNA from blood cells was extracted using DNA extraction Kit.Results: A number of genetic parameters such as mean number of alleles, allele frequency, gene diversity, polymorphic information content (PIC), and genetic distance were calculated using Power Marker V3.25 software. The DYS458 had the highest diversity (GD: 0.883), while loci DYS456 and Y-GATA-H4 had the lowest (GD: 0.574). The Dendrogram separated the populations into two main clades, the Kurd group and the Arab group except in one case only from the whole population.Conclusions: This study confirms the discriminating power of high-resolution Y-STR typing and provides first primary dataset on Iraqi Kurdistan samples. The comparison of Kurdish and Arab datasets reveals an interesting overall picture of isolation of Kurdish group. The primers DYS19, DYS448, DYS458, and DYS635 can be considered the best for their high PIC power.

Identification and expression profiling of MSY genes of yak for bull fertility

Yak (Bos grunniens) is a unique bovine species and considered as lifeline of highlanders. The male subfertility in yak is a matter of concern that causes huge economic loses. The spermatogenesis and male reproduction machinery are critically governed by Y-linked genes which tend to acquire necessary information in the course of evolution. The Y-linked fertility genes are present in multiple copies with testis-limited expression. To understand this novel complexity, 12 male-specific region of Y chromosome (MSY) genes have been studied in the yak. Targeted genes are amplified in male and female genomic DNA and confirmed the male derived specificity. Moreover, testis and sperm-specific expressions of MSY genes are distinct among different tissues. The quantitative polymerase chain reaction results validate the expression pattern of these genes in various tissues with predominant expression intestis and sperm. The sequencing of resultant yak MSY genes gives significant result and shows similarity with cattle (Bos indicus), but few nucleotide mismatches define the proposition of infertile male in the F1 hybrid of cattle and yak. The identified MSY genes can be used to establish male-specific characteristics and to differentiate male and female yak genotypically. Further, these genes may act as valuable resources to understand the capacity of spermatogenesis, embryogenesis, cellular growth, azoospermia and malesubfertility in the yak.

Establishing gene Amelogenin as sex-specific marker in yak by genomic approach

Yak, an economically important bovine species considered as lifeline of the Himalaya. Indeed, this gigantic bovine is neglected because of the scientific intervention for its conservation as well as research documentation for a long time. Amelogenin is an essential protein for tooth enamel which eutherian mammals contain two copies in both X and Y chromosome each. In bovine, the deletion of a fragment of the nucleotide sequence in Y chromosome copy of exon 6 made Amelogenin an excellent sex-specific marker. Thus, an attempt was made to use the gene as an advanced molecular marker of sexing of the yak to improve breeding strategies and reproduction. The present study confirmed that the polymerase chain reaction amplification of the Amelogenin gene with a unique primer is useful in sex identification of the yak. The test is further refined with qPCR validation by quantifying the DNA copy number of the Amelogenin gene in male and female. We observed a high level of sequence polymorphisms of AMELX and AMELY in yak considered as novel identification. These tests can be further extended into several other specialized fields includingforensics, meat production and processing, and quality control.

Síndrome de Turner mixoploide: aberración estructural del cromosoma Y y su correlación con los dermatoglifos / Mixoploid turner Syndrome with a Y-chromosome structural aberration and its correlation with dermatoglyphs

Resumen ANTECEDENTES El análisis citogenético del síndrome de Turner suele ser una línea monosómica X. Son raros los casos reportados con más de una línea celular y aún menos con aberraciones estructurales del cromosoma Y. No es común que se incluyan análisis dermatoglíficos. CASO CLÍNICO Paciente de 8 años de edad, que al examen físico no evidenció ninguna característica fenotípica propia del síndrome de Turner, excepto talla baja, 1.28 cm (por debajo del percentil 3). La laparoscopia exploradora mostró al útero hipoplásico, trompas rudimentarias, cintillas ováricas hipoplásicas delgadas y anillos inguinales normales sin evidencia de hernias, no se detectó tejido testicular. El resultado de la citogenética convencional en sangre periférica fue de: 46,XY; bandeo "C" 46,XY; FISH 45,X[230]/46,XY[117]/46,X,dic.Y[64]. La dactiloscopia con aumento de verticilos coincidió con el aumento del número de crestas mayor al reportado como normal (127 ± 0.8), en quiroscopia ángulo ATD (92°), número de crestas a-b (86) y el porcentaje de t (24.3%). CONCLUSIÓN Se discute uno de los pocos casos reportados en la bibliografía de síndrome de Turner con tres líneas celulares diferentes, resultantes de un evento no disfuncional poscigótico y estructural cromosómico, así como el análisis de la dactiloscopia y quiroscopia y los aspectos genéticos, medio ambientales y bioquímicos de los dermatoglifos, coincidentes con los del síndrome clásico.

Abstract BACKGROUND Usually, cytogenetic analysis of Turner´s syndrome is presented as a single monosomic X cell line. Are rare the reported cases in which there are multiple cell lines and even less frequent descriptions of structural chromosomal aberrations of the Y-chromosome. Additionally, the cases reported to date do not include finger/palm process analysis. We present an infrequent case of a Turner syndrome with three different cell lines including a structural aberration of the Y-chromosome and to correlate with finger process and palm process analysis. CLINICAL CASE A 8-year-old female patient who did not show any Turnerian syndrome phenotypic characteristics except low height, 1.28 cm (under 3th percentile). Exploratory laparoscopy shows hypoplastic uterus, with rudimentary tubes, thin hypoplastic ovaries and normal inguinal rings without evidence of hernias. No testicular tissue was detected. Conventional cytogenetic findings in peripheral blood are: 46, XY; "C" banding 46, XY; FISH 45, X [230] / 46, XY [117] /46,X,dic.Y [64]. Finger process with increase of whorls was observed, coinciding with the increase in the number of ridges higher than that reported as normal (127 ± 0.8) and in the palm process the atd angle (92º), number of a-b crests (86) and the percentage of t (24.3%). CONCLUSION We discuss one of the few cases reported in the scientific literature of Turner syndrome with three different cell lines results from a non-dysfunctional post-zygotic etiology and its chromosomic structure; as well as the results of genetic, environmental and biochemical aspects of the finger/palm process and their correlation with the classical syndrome.

Genetic polymorphisms of 19 Y-STR loci in in the Han population in Northeast China and the cluster analysis of ethnic groups in northeast Asia region / 重庆医学

Objective To investigate the polymorphisms of the 19 Y-STR loci in the Han population in Northeast China,and analyze the genetic relationships of 15 ethnic groups in northeast Asia region,and to evaluate their forensic value and population genetic value.Methods The 19 Y-STR unrelated Han males in 200 unrelated Han males in Northeast China were amplified with the Y-filer system,and the PCR products were analyzed by the 310 Genetic Analyzer.The AMOVA analysis,cluster analysis and MDS analysis were calculated by Arelquin3.11,Mega4.1 and SPSS17.0.Results The polymorphisms of 19 Y-STR loci in the Han population in Northeast China had generally higher gene diversity value which were ranged from 0.350 9 (DYS391) to 0.971 1 (DYS385a/b),and totally 200 haplotypes were observed.The 19 Y-STR loci displayed high genetic polymorphisms in the Han population in Northeast China,indicating that these 19 loci were useful genetic markers for forensic personal identification and paternity testing.There were distinctions among 15 ethnic groups.The genetic distance between 15 ethnic groups were ranged from 0.000 9 to 0.643 2,and the conclusion of cluster analysis and MDS analysis were similar to the ethnogeny research and ethnic migration history.Conclusion The 19 Y-STR loci displayed high genetic polymorphisms in the Han population in Northeast China,and these 19 loci were useful genetic markers for forensic personal identification and paternity testing.

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia / 亚洲男科学杂志(英文版)

The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC). The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa, AZFb, and AZFc) and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn (NB) outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm) and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI). There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB (2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C). Of the 29 EJAC cycles, there was a birth of 8 NB (in AZFc). In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

Nested-PCR multiplex test with increased sensitivity for detection of allogeneic cells transplanted from male to female mice / Nested-PCR multiplex com aumento da sensibilidade de detecção de células alogênicas transplantadas de camundongos machos para fêmeas

Cell therapy has shown encouraging perspectives for human and veterinary medicine. Experimentally, genetic manipulation allows to mark and locate allogeneic cells. However, this makes their genotype/phenotype different from non-marked cells used clinically. Alternatively, the presence of the Y-chromosome enables male donor cells detection in female organisms. However, the concentration of engrafted cells may be minimal in tissues, due to systemic distribution. In this study, a nested-PCR multiplex test was developed, aiming to increase the sensitivity of the presence/absence diagnosis of male mice adipose-derived (ADSC-Y) and bone marrow mononuclear (BMNC-Y) cells in samples of blood and lungs from females, after endovenous transplantation. Four females received placebos; four females received ADSC-Y from two males; and four females received BMNC-Y from two males. The PCR first-step included two primer sets (multiplex): one for amplification of a Y-chromosome fragment (SRYout; 300bp); the other for amplification of an X-chromosome (DXNds3 gene) fragment. In the PCR second-step, one primer set (SRYinn) was used for amplification of a 110bp fragment, restrained in the SRYout amplification product. The PCR internal control (DXNds3 gene) was detected in all DNA samples, whereas the SRY gene external fragment (300bp) was detected exclusively in ADSC-Y and BMNC-Y pure DNA samples. The SRY gene internal fragment (110bp) was detected in 100% of the blood and lung samples from the ADSC-Y and BMNC-Y female recipients. The nested-PCR technique increased sensitivity and reliability for molecular diagnostic of presence or absence of male mice cells in body fluids and tissues of female recipients after endovenous transplantation.

A terapia celular traz perspectivas encorajadoras à medicina humana e veterinária. Experimentalmente, a manipulação genética permite a marcação e a localização de células alogênicas. Porém, isso torna seu genótipo/fenótipo diferente daquelas usadas clinicamente, sem marcação. Alternativamente, a presença do cromossomo Y possibilita detectar células de doadores machos no organismo de fêmeas. Todavia, a concentração de células transplantadas pode ser mínima em certos tecidos, pela distribuição sistêmica. Neste estudo, foi desenvolvida uma nested-PCR multiplex, visando a aumentar a sensibilidade do diagnóstico de presença/ausência de células derivadas do tecido adiposo (CDTA-Y) e derivadas da fração mononuclear da medula óssea (CFMO-Y) de camundongos machos, em amostras de sangue e de pulmões de camundongos fêmeas, após transplante endovenoso. Quatro fêmeas receberam placebo; quatro fêmeas receberam CDTA-Y de dois machos; e quatro fêmeas receberam CFMO-Y de dois machos. A primeira fase da PCR teve dois pares de primers (multiplex): um para amplificação de fragmento do cromossomo Y (SRYout; 300pb); outro para amplificação de fragmento do cromossomo X (gene DXNds3). Na segunda fase da PCR, foi usado um par de primers para amplificação de fragmento de 110pb (SRYinn) interno ao produto amplificado pelo SRYout. O controle interno da reação (gene DXNds3) foi detectado em todas as amostras de DNA testadas, enquanto que o fragmento externo do gene SRY (300pb) foi detectado apenas nas amostras puras de DNA de CDTA-Y e CFMO-Y. O fragmento interno do gene SRY (110pb) foi detectado no sangue e nos pulmões de 100% das receptoras de CDTA-Y e CFMO-Y. A técnica de nested-PCR aumentou a sensibilidade e a segurança do diagnóstico molecular de presença ou ausência de células de camundongos machos em fluidos e tecidos de receptoras fêmeas após transplante endovenoso.

Establishing a 29 Y-STR Loci Multiplex PCR System / 法医学杂志

Objective To establish a 29 Y-STRloci multiplex PC Rsystemfor investigating the genetic polymorphisms and to assess its application value in forensic science. Methods Amultiplex PC Rsystemw as established using a five color fluorescence labeling 29 Y-STRloci (DYS456, DYS389Ⅰ, DYS437, DYS447, DYS389Ⅱ, DYS438, DYS522, DYS460, DYS458, DYS622, DYS390, DYS392, DYS448, DYS449, DYS391, Y-GATA-H4, DYS388, DYS19, DYS385a/b, DYS527a/b, DYS393, DYS459a/b, DYS635, DYS439, DYS570 and DYS627) for multiple amplification and capillary electrophoresis. And its applicability w as validated w ith genetic polymorphismdata of 29 Y-STRof unrelated 2 000 male samples in Shandong Han population. Results Atotal of 1981different haplotypes of 2 000 individuals show ed genotype diver-sity betw een 0.370 0 and 0.965 4. The systemprovided stable and accurate typing w ith high sensitivity of 0.05 ng. It satisfied the needs of variety of routine biological samples. Conclusion The 29 Y-STRloci multiplex PC Rsystemcould be applied for actual cases and establishment of Y-STRdatabase. In addi-tion, it has great significance in forensic science practices and related research.

Complex genetic origin of Indian populations and its implications.

Indian populations are classified into various caste, tribe and religious groups, which altogether makes them very unique compared to rest of the world. The long-term firm socio-religious boundaries and the strict endogamy practices along with the evolutionary forces have further supplemented the existing high-level diversity. As a result, drawing definite conclusions on its overall origin, affinity, health and disease conditions become even more sophisticated than was thought earlier. In spite of these challenges, researchers have undertaken tireless and extensive investigations using various genetic markers to estimate genetic variation and its implication in health and diseases. We have demonstrated that the Indian populations are the descendents of the very first modern humans, who ventured the journey of out-of-Africa about 65,000 years ago. The recent gene flow from east and west Eurasia is also evident. Thus, this review attempts to summarize the unique genetic variation among Indian populations as evident from our extensive study among approximately 20,000 samples across India.

The low frequency of Y chromosome microdeletions in subfertile males in a Sinhalese population of Sri Lanka.

Aims: This study was designed to determine the prevalence of azoospermia factor (AZF) microdeletions on the Y chromosome in Sri Lankan Sinhalese infertile men with azoospermia and severe oligozoospermia. Settings and Design: The patient group was 207 karyotypically normal infertile Sinhalese males. Materials and Methods: The presence of 13 sequence-tagged site (STS) markers in the AZF region was tested using multiplex polymerase chain reaction (M-PCR). One hundred and twenty unselected men were also studied as a control group. Results: Three (1.5%) had classic Y chromosome microdeletions in the AZFc sub-region. Conclusions: These results suggest a much lower Y chromosome microdeletion frequency than previously thought, even among a strictly selected group of sub-fertile males in Sri Lanka.

Loss of Y-chromosome does not correlate with age at onset of head and neck carcinoma: a case-control study

Loss of Y-chromosome has been correlated with older age in males. Furthermore, current evidence indicates that Y-chromosome loss also occurs in several human tumors, including head and neck carcinomas. However, the association between Y nullisomy and the occurrence of neoplasias in elderly men has not been well established. In the present study, the association between Y-chromosome loss and head and neck carcinomas was evaluated by comparison to cells from peripheral blood lymphocytes and normal mucosa of cancer-free individuals matched for age using dual-color fluorescence in situ hybridization. Twenty-one patients ranging in age from 28 to 68 years were divided into five-year groups for comparison with 16 cancer-free individuals matched for age. The medical records of all patients were examined to obtain clinical and histopathological data. None of the patients had undergone radiotherapy or chemotherapy before surgery. In all groups, the frequency of Y-chromosome loss was higher among patients than among normal reference subjects (P < 0.0001) and was not age-dependent. These data suggest that Y-chromosome loss is a tumor-specific alteration not associated with advanced age in head and neck carcinomas.

Web-based Y-STR Database for Haplotype Frequency Estimation and Kinship Index Calculation / 대한법의학회지

We developed a web-based Y chromosomal short tandem repeat (Y-STR) database (ySTRmanager, http://ystrmanager.yonsei.ac.kr) to facilitate calculation of Y-STR haplotype frequency estimates for random matches and kinship indices for various relationship levels. The ySTRmanager database provides 3 functions: (i) Y-STR haplotype search, (ii) kinship index calculation, and (iii) user database configuration. The Y-STR haplotype search function allows researchers to retrieve Y-STR haplotypes that meet queried Y-STR allele, Y-haplogroup affiliation, and/or sample information from a selected population in the open database, which consists of 12-17 Y-STR loci. The number of matches in a selected population, haplotype frequency estimator, and detailed results for matched and neighbor haplotypes are displayed as a set of search results. The kinship index calculation function provides kinship indices of 2 input Y-STR haplotypes for the relationship represented by the number of meioses, with consideration of target population and mutation rate of each Y-STR. In addition, ySTRmanager allows registered users to configure their own database to store and analyze Y-STR haplotype and/or mutation rate data. The stored Y-STR data can be used in the search function and in the analysis to obtain forensic statistical values. The ySTRmanager will be a useful system to analyze and manage Y-STR data in the practice of forensic genetics.

Polimorfismos de 17 marcadores STR del cromosoma-Y en una muestra poblacional del altiplano cundiboyacense / Polymorphism of 17 Y-chromosome STR markers in a sample from the cundiboyacense plateau

Introducción: La tipificación molecular de ADN de cromosoma-Y es una herramienta de reconocida importancia en el proceso de identificación de individuos de género masculino en diversos casos forenses. Actualmente es una herramienta de apoyo para los laboratorios de genética estatales en la identificación de víctimas del conflicto armado en Colombia, dentro de los procesos enmarcados en la Ley de Justicia y Paz. En este estudiose determina el haplotipo del cromosoma-Y que será comparado con parientes por línea paaterna de género masculino, con el fin de realizar el análisis estadístico de estos marcadores, aportar a una base de datos colombiana y comparar con parientes de la línea masculina. Objetivo: Realizar una caracterización de haplotipos mediante análisis de marcadores moleculares, STR del cromosoma-Y en una muestra de población del altiplano cundiboyacense colombiano. Discusión: Los valores de diversidad haplotípica, poder de discriminación y probabilidad de coincidencia al azar corroboran la utilidad del análisis de STR-Y en casos de filiación por línea paterna y son coherentes con los valores observados en el inicio del desarrollo de bases de datos de haplotipos.Conclusión: Los datos del análisis de los 17 marcadores STR-Y, recogidos en el presente estudio, aportan haplotipos de población del altiplano cundiboyacense, la cual es una de las concentraciones de población más significativas en Colombia. Estos resultados corresponden a una recopilación de datos informativos que permiten mejorar una base de datos en la que se genere la estimación real de frecuencias haplotípicas de STR-Y para su aplicación en la práctica forense y estudios de poblaciones humanas.

Introduction: The application of Y-Chromosome molecular DNA typing is a tool of recognized importance in the process of identification of male individuals in various forensic cases, and currently it is now a support tool for genetic laboratories seeking to identify victims of the armed conflict in Colombia within the legal process of ®Justice and Peace¼. In this report, the Y-chromosome haplotype is determined and statistical analyses are performed to improve databases of Colombian Y-chromosome for comparison with relatives of the male line. Objective: Characterization of haplotypes through analysis of Y-chromosome STR molecular markers in a sample of Colombian Cundiboyacense highland population. Discussion: The values of haplotype diversity, discrimination power, and probability of random coincidence showed the usefulness of Y-STR analysis in cases of patrilineal descent and are consistent with values observed in the early development of haplotype databases. Conclusion: The data analysis of the 17-Y STR markers obtained in this study provide haplotypes for the Cundiboyacense highlands, one of the most significant concentrations of population in Colombia, and serves as an informative database for forensic practice and genetic studies for human populations.

A case of turner mosaicism with virilization / 대한산부인과학회지

A 17-year-old girl presented with primary amenorrhea, short stature, and clitomegaly. Her karyotype showed Turner mosaicism of 45,X/46,XY,idic(Y)(q11.23)del(Y)(q11.23). Laparoscopic bilateral gonadectomy was performed and there was testicular tissue in left ovary.

Genetic signatures of parental contribution in black and white populations in Brazil

Two hundred and three individuals classified as white were tested for 11 single nucleotide polymorphisms plus two insertion/deletions in their Y-chromosomes. A subset of these individuals (n = 172) was also screened for sequences in the first hypervariable segment of their mitochondrial DNA (mtDNA). In addition, complementary studies were done for 11 of the 13 markers indicated above in 54 of 107 black subjects previously investigated in this southern Brazilian population. The prevalence of Y-chromosome haplogroups among whites was similar to that found in the Azores (Portugal) or Spain, but not to that of other European countries. About half of the European or African mtDNA haplogroups of these individuals were related to their places of origin, but not their Amerindian counterparts. Persons classified in these two categories of skin color and related morphological traits showed distinct genomic ancestries through the country. These findings emphasize the need to consider in Brazil, despite some general trends, a notable heterogeneity in the pattern of admixture dynamics within and between populations/groups.

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese

Studies on linkage disequilibrium (LD) across the genome and populations have been used in recent years with the main objective of improving gene mapping of complex traits. Here, we characterize the patterns of genetic diversity of HLA loci and evaluate LD (D') extent in three genomic regions: Xq13.3, NRY and HLA. In addition, we examine the distribution of DXS1225-DXS8082 haplotype diversity in Azoreans and mainland Portuguese. Allele distribution has demonstrated that the São Miguel population is genetically very diverse; haplotype analysis revealed 100 percent discriminatory power for X- and Y-markers and 94.3 percent for HLA markers. Standardized multiallelic D' in these three genomic regions shows values lower than 0.33, thereby suggesting there is no extensive LD in the São Miguel population. Data regarding the distribution of DXS1225-DXS8082 haplotypes indicate that there are no significant differences among all the populations studied, (Azorean geographical groups, the Azores archipelago and mainland Portugal). Moreover, in these as well as in other European populations, the most frequent DXS1225-DXS8082 haplotype is 210-219. Even though São Miguel islanders and Azoreans do not constitute isolated populations and show LD for only very short physical distances, certain characteristics, such as the absence of genetic structure, the same environment and the possibility of constructing extensive pedigrees through church and civil records, offer an opportunity for dissecting the genetic background of complex diseases in these populations.