Methods and Research Hotspots of Forensic Kinship Testing / 法医学杂志

Kinship testing is widely needed in forensic science practice. This paper reviews the definitions of common concepts, and summarizes the basic principles, advantages and disadvantages, and application scope of kinship analysis methods, including identity by state (IBS) method, likelihood ratio (LR) method, method of moment (MoM), and identity by descent (IBD) segment method. This paper also discusses the research hotspots of challenging kinship testing, complex kinship testing, forensic genetic genealogy analysis, and non-human biological samples.

Frequency of JK (a-b-) in Yichang: genetic pedigree analysis of Jk (a-b-) and Jka weak expression / 中国输血杂志

【Objective】 To explore the molecular hereditary and frequency of Jk(a-b-) in blood donors in Yichang. 【Methods】 A total of 49 999 samples from Yichang Red Cross Central Blood Station were screened for Jk(a-b-) by urea hemolysis test(2 mol /L). The phenotypes of JK (a-b -) probands and their families were confirmed by monoclonal anti-Jka and anti-Jkb, and the whole exon of SLC14A1 gene was sequenced. 【Results】 The frequency of Jk(a-b-) in Yichang blood donors was 0.004% (2/49 999), and the exon sequencing of SLC14A1 gene confirmed that both two probands were JK*02N.01 caused by c. 342-1G>A homozygous mutation.Besides, JK*01W.01 allele was observed in the pedigree analysis, and weak expression of Jka was found in 4 out of 11 family members. 【Conclusion】 The frequency of JK (a-b -) in Yichang blood donors is similar to those in Shanghai 0.004%(2/48 400), and both caused by JK * 02N.01 allele with high frequency in Southeast Asia. The epidemiological survey of JK * 01w.01 allele frequency should be further performed.

Genetic variability of Tropical Milking Criollo cattle of Mexico estimated from genealogy information / Variabilidad genética de la raza bovina criolla Lechero Tropical de México estimada a partir de información genealógica / Variabilidade genética da raça bovina crioula Leiteiro Tropical do México estimada a partir de informação genealógica

Abstract Background: Genetic variability of populations is essential for their genetic conservation and improvement, and genealogy analysis is a useful tool to estimate it. Objective: To determine genetic variability and inbreeding levels in Tropical Milking Criollo (LT). Methods: This study analyzed the genealogy of LT using the ENDOG software. Registration certificates of 3,427 LT animals born between 1945 and 2013, and from 608 born between 1950 and 2013 were used. Two populations were defined: the first one with all registered animals (PLT), and the second with nucleus animals (PCP). Results: Estimates for PLT and PCP were: founders 890, 114; ancestors 855, 102; effective founders 111, 43; effective ancestors 72, 26, and effective population size 68.1 and 64.6, respectively. Inbreeding coefficients were 4.32 and 3.48% for the highest genetic integrity index; and the average relatedness (AR) coefficients were 1.19 and 5.55 for PLT and PCP, respectively. Genealogy depth was shallow in both populations, with full equivalent generations of 2.00 and 3.53. Global generation intervals were about seven years. Conclusions: The LT population is not endangered and its genetic improvement program should continue.

Resumen Antecedentes: la variabilidad genética de las poblaciones es esencial para su conservación y mejora genética, y el análisis de genealogía es útil para estimarla. Objetivo: determinar la variabilidad genética y los niveles de consanguinidad en la raza criolla Lechero Tropical (LT). Métodos: el estudio analizó la genealogía de la raza criolla LT con el programa ENDOG v4.8. Se utilizaron 3.427 registros de animales LT nacidos entre 1945 y 2013, y de 608 nacidos entre 1950 y 2013. Se definieron dos poblaciones, una que incluye todos los animales registrados (PLT) y otra solamente con los animales provenientes del núcleo genético (PCP). Resultados: en la PLT y PCP se estimaron animales fundadores 890, 114; ancestros 855, 102; número efectivo de fundadores 111, 43; número efectivo de ancestros 72, 26, y tamaño efectivo de población 68,1, 64,6, respectivamente. Para la categoría más alta de índice de integridad genética, los coeficientes de consanguinidad fueron 4,32 y 3,48%; y el coeficiente medio de relación global (AR) fue 1,19 y 5,55 para PLT y PCP, respectivamente. La profundidad de la genealogía en ambas poblaciones fue superficial con generaciones completas equivalentes de 2,00 y 3,53. Los intervalos generacionales globales fueron cercanos a siete años. Conclusiones: la población LT no se encuentra en riesgo de extinción y puede continuar con su programa de mejora genética.

Resumo Antecedentes: a variabilidade genética das populações é essencial para sua conservação e melhora genética e a análise da genealogia é útil para estimá-la. Objetivo: determinar a variabilidade genética e os níveis de consanguinidade na raça crioula Leiteiro Tropical (LT). Métodos: o estudo analisou a genealogia da raça crioula LT com o programa ENDOG v4.8. Foram utilizaram 3.427 registros de animais LT nascidos de 1945 a 2013, e de 608 nascidos entre 1950 e 2013. Foram definidas duas populações, uma que inclui todos os animais registrados (PLT) e outra somente com os animais provenientes do núcleo genético (PCP). Resultados: na PLT e PCP foram estimados animais fundadores 890, 114; ascendentes 855, 102; número efetivo de fundadores 111, 43; número efetivo de ascendentes 72, 26 e tamanho efetivo da população 68,1, 64.6, respectivamente. Para a categoria mais alta de índice de integridade genética os coeficientes de consanguinidade foram 4,32 e 3,48%; o coeficiente médio da relação global (AR) foi 1,19 e 5,55 para PLT e PCP, respectivamente. A profundidade da genealogia em ambas populações foi superficial com gerações completas equivalentes de 2,00 e 3,53. Os intervalos geracionais globais foram próximos a sete anos. Conclusões: a população LT não se encontra em risco de extinção e pode continuar com seu programa de melhoria genética.

Population structure of Brazilian Crioula Lageana cattle ( Bos taurus ) breed / Estructura poblacional de la raza bovina brasileña Crioula Lageana (Bos taurus) / Estrutura populacional da raça brasileira bovina Crioula Lagenana (Bos taurus)

Abstract Background: The lack of information on population structure is one of the main obstacles to develop breeding and conservation programs for animal genetic resources. Objective: To characterize the population structure of Crioula Lageana cattle breed (Bos taurus) in order to assess its genetic diversity. Methods: Database with information of 1,638 Crioula Lageana animals, collected during 38 years, was analysed using the ENDOG v.4.4 program. Results: Effective population size ranged from 72.53 in complete generations to 143.90 in maximum generations. Inbreeding and Average Relatedness coefficients were 0.34 and 0.91%, respectively. The effective number of founders and ancestors were 29 and 28 animals, respectively, and only ten ancestors were responsible for 50% of the genetic variability of the whole population. The average generation interval was 5.84 years in the paternal line and 7.70 in the maternal one. Wright´s F statistics indicated low genetic distances between subsets in relation to the total population (Fst = 0.0015), between individuals with respect to their subpopulation (Fis = -0.0027), and between individuals in relation to the total population (Fit = -0.0012). Conclusion: Analysis of the population indicated that, despite the small number of animals with known parentage and considerable loss of genetic variability by the constant use of a few sires, and same value of number of founders and ancestors, the population showed good genetic management, low inbreeding, low genetic differentiation among subpopulations, and probably adequate effective population size for breed preservation.

Resumen Antecedentes: La falta de información sobre estructura poblacional es una de las principales barreras para el desarrollo de programas de mejoramiento genético y conservación de los recursos zoogenéticos. Objetivo: Caracterizar la estructura poblacional de la raza bovina Crioula Lageana (Bos taurus) para evaluar su diversidad genética. Métodos: Una base de datos con información de 1.638 animales Crioula Lageana (Bos taurus), recogidos durante 38 años, fue analizada utilizando el programa ENDOG v.4.4. Resultados: El tamaño efectivo de la población varió de 72,53 en las generaciones completas a 143,90 en las generaciones máximas. La endogamia y la relación media de los coeficientes fue 0,34 y 0,91%, respectivamente. El número efectivo de fundadores y antepasados fue de 29 y 28 animales respectivamente, y sólo diez antepasados fueron responsables del 50% de la variabilidad genética de la población. El intervalo promedio de generación fue de 5,84 años en la línea paterna y de 7,70 en la línea materna. El índice estadístico de Wright's F indica una baja distancia genética entre los subconjuntos en relación con la población total (Fst = 0,0015), entre los individuos con respecto a su subpoblación (Fis = -0,0027), y entre los individuos en relación con la población total (Fit = -0,0012). Conclusión: El análisis de la población indica que a pesar del pequeño número de animales con origen conocido y la considerable pérdida de variabilidad genética por el uso constante de pocos toros y el mismo valor del número de fundadores y antepasados, la población mostró un buen manejo genético, baja endogamia, baja diferenciación genética entre las subpoblaciones y probablemente un tamaño efectivo adecuado de la población.

Resumo Antecedentes: A falta de informações sobre a estrutura da população está entre os principais obstáculos ao desenvolvimento de programas de melhoramento e conservação de recursos genéticos animais. Objetivo: Caracterizar a estrutura populacional da raça bovina Crioula Lageana (Bos taurus) para acessar a diversidade genética da raça. Métodos: Banco de dados com informação de 1.638 animais Crioula Lageana, recolhidos durante 38 anos, foi analisado utilizando EndoG v.4.4. Resultados: O tamanho efetivo populacional variou de 72,53 nas gerações completas para 143,90 nas gerações máximas. Coeficientes de Endogamia e Relação foram 0,34 e 0,91%, respectivamente. O número efetivo de fundadores e ancestrais foram 29 e 28 animais, respectivamente, sendo que apenas dez ancestrais foram responsáveis por 50% da variabilidade genética de toda a população. O intervalo de gerações foi de 5,84 anos para linha paterna e 7,70 para linha materna. As estatísticas F de Wright indicaram uma pequena distância genética das subpopulacoes entre os subgrupos em relação à população total (FST = 0,0015), entre os indivíduos em relação à sua subpopulação (FIS = -0,0027) e entre indivíduos em relação à população total (Fit = -0,0012). Isto indica uma baixa diferenciação genética na população estudada. Conclusão: A análise populacional indicou que, apesar do número pequeno de animais com ascendência conhecida e considerável perda de variabilidade genética pelo uso constante de alguns touros e mesmo valor do número de fundadores e antepassados, a população mostrou boa gestão genética, endogamia baixa, baixa diferenciação genética entre subpopulações e provavelmente adequado tamanho efetivo da população para a preservação da raça.

Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study

BACKGROUND AND OBJECTIVES: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the disease. SUBJECTS AND METHODS: Pedigree analysis was performed on the basis of family history and audiometric tests. Pure tone audiometry, tympanometry, and acoustic reflexes were evaluated for the family members. Audiometric analysis was also carried out for the individuals who have already underwent corrective surgery at the time of study. RESULTS: Out of 112 family members, 17 were affected individuals, and 11 of them were surgically confirmed. Hearing loss (HL) started unilaterally and progressed to bilateral form. Otosclerosis was presented in early 20’s in the first and second generations but it was delayed to mid-late 30’s in the fourth generation. An affected female was diagnosed with otosclerosis during her pregnancy. Though the disease was familial, a mother of four affected offspring in this family did not develop otosclerosis until she died at the age of 84. CONCLUSIONS: The five-generation family, which was analysed in the present study, exhibited autosomal dominant inheritance of otosclerosis with reduced penetrance. Bilateral HL and pregnancy-aggravated otosclerosis were observed in this family. It was found for the first time that the age of onset of the disease delayed in the successive generations. The current study indicated the importance of detailed pedigree analysis for better clinical management of otosclerosis.

Blood pressure variability and pedigree analysis of nocturnal SBP dipping in Kumbas from rural Chhattisgarh, India.

Family is the smallest unit of people to share most of the lifestyle, environmental and genetic factors. They are likely to have similarity in many physiological and behavioural aspects. Therefore, we designed a protocol to test the effect of large rural Indian families living together (Kumbas), on blood pressure variability. We also investigated the hypothesis that ‘nocturnal dipping’ in systolic blood pressure (SBP) is not heritable. Members of two families (1 and 2) consisting of 3-4 generations willingly participated in the study. Both families (natives of Chhattisgarh) belong to reasonably peaceful rural area and are financially stable. Farming is the main occupation of the members of both families. Few members of the families had jobs or small business. The null hypothesis regarding heritability of nocturnal dipping trait was accepted based on data emanating from either of the studied families. Hourly-averaged values depicted less variation in males and females of family 1 from midnight to early morning at around 06:00, as compared to that in males and females of family 2. The 24 h averages of BP in family 2 were significantly higher as compared to that in family 1. Further, in family 2 the peaks of SBP, diastolic blood pressure (DBP) and mean arterial pressure (MAP) occurred significantly earlier as compared to that in family 1. The peak spread of SBP, DBP, heart rate (HR), MAP and pulse pressure (PP) among the members of family 1 was narrower than that for the members of family 2. Arbitrary cut-off values for classification of dipping, small sample size, and age dependency of nocturnal dipping might have marred outcome of the pedigree analysis of nocturnal dipping trait in this study. We have a hunch that the family shares typical temporal ups and downs in 24 h BP and HR. The above hypothesis needs confirmation based on studies with large data set involving subjective and objective assessment of the effects of psychosocial factors on BP and HR variability.

Pedigree analysis on the relationship between small Y and azoospermia factor microdeletion / 中华泌尿外科杂志

Objective To study the relationship between small Y and azoospermia factor (AZF)microdeletions and the effect on male infertility.Methods Data of 379 infertile males of chromosomal karyotype analysis from May 2010 to October 2011 were investigated.Patients with small Y chromosome were also performed C banding and AZF microdeletions,and their fathers and brothers were offered the same examinations.Results Eight patients were small Y chromosome,and their fathers or brothers' chromosome karyotypes were consistent with the probands.Among the 8 cases,there were 3 patients with AZF microdeletions,while their fathers and brothers didn't have microdeletions.Another 5 cases of small Y and their fathers did not exist AZF microdeletions.Conclusions The small Y karyotype is not the key factors that cause male infertility.The reason for infertile patients with small Y and AZF microdeletions was maybe the microdeletions.However,patients with small Y but without AZF microdeletions are not important to male infertility.

Progressive symmetric erythrokeratoderma: Report of a Chinese family.

A large pedigree of progressive symmetric erythrokeratoderma is reported. The proband was a 22-year-old male with generalized asymptomatic lesions characterized by symmetrical well-demarcated erythematous hyperkeratotic plaques mainly distributed on the extremities. The proband's parents were also affected, and they were first cousins. Thus, a case of familial progressive symmetric erythrokeratoderma is described.

An analysis of etiological and genetic factors of a patient with familial hemophagocytic lymphohistiocytosis / 中华内科杂志

Objective To analyze the etiological factor and genetic feature of a familial hemophagocytic lymphohistiocytosis patient with PRF1 mutation (FHL2) with human herpesvirus 7 (HHV7)infection and its family constellation. Methods Clinical characteristics, laboratory examinations of a FHL2 case with HHV7 infection were reported. HHV1-HHV8 virus DNA was screened by PCR; NK cell function was analyzed by flow cytometry; PRF1 gene mutations were analyzed by PCR and direct sequencing, structure of mutant PRF1 proteins were analyzed using ExPasy and I-TASSER server and genetics pedigree were analyzed. Results The patient's HHV7 viral was detected positive with DNA copy number of 350/106 peripheral nucleated cells. Flow cytometry analysis showed decrease both in proportion of perforin positive NK cells and perforin protein expression. Genetic testing showed PRF1 biallelic heterozygote mutations (c. 503G ＞ A/p. S168N and c. 1177T ＞ C/p. C393R) and pedigree analysis showed they were inherited. The patient was then treated with antivirus therapy, dexamethasone and VP16 therapy, but only achieved partial response. The patient was then followed by human leukocyte antigen 10/10 allele identical nonconsanguinity allogeneic hematopoietic stem cell transplantations (allo-HSCT) and soon the successful implantation of donor hematopoietic cells and persistent recovery was achieved. The patient was now surviving without recurrence for 9 months after allo-HSCT. Conclusions FHL is prone to be misdiagnosed as lymphoma. Genetic analysis of related gene mutation and herpes simplex virus detection will help in early and accurate diagnosis. Allo-HSCT is a fundamental treatment of FHL.

Study of Genetic Inheritance in Osmidrosis Patients Based on Pedigree Analysis

PURPOSE: Bacterial degeneration of sweat and increased secretion of over developed apocrine sweat gland are known causes of osmidrosis. In addition, genetic inheritance must be another important cause, because there are high incidence rates of osmidrosis in familial members. But the research about genetic inheritance has been overlooked. For this reason we studied genetic inheritance in osmidrosis patients based on pedigree analysis. METHODS: We have evaluated pedigree of 52 patients who have diagnosed and treated in our hospital from January 2003 to August 2007. For making pedigrees, we have evaluated 3 generations of affected lineage from osmidrosis patients. Family members having uncertain information or those who are before puberty are excluded. In pedigree analysis, inheritance rate and inheritance pattern from parents, prevalence rate in generations and sexual prevalence are evaluated. RESULTS: In this study, we divided pedigrees into 3 different groups according to inheritance pattern. Group A is genetically unrelated pattern with no prevalence between familial members in 7 families. Group B is weakly expressed pattern with 17 families there are genetically related but no genetic patterns are founded. In group B inheritance rate is 34% and incidence rate is 21% in 2nd generation and 22% in 3rd generation. Group C is autosomal dominant pattern with 31 families. In group C, there are no differences in sexual prevalence. Incidence rate is 43% in 2nd generation and 49% in 3rd generation. CONCLUSION: In this study, we have studied pedigrees of 52 families of osmidrosis patients. 60% of the pedigrees shows autosomal dominant pattern, 33% shows genetically related but no definite autosomal dominant pattern and 7% shows genetically unrelated pattern. In Conclusion, This study can be basic data for future gene analysis study of osmidrosis.

Contribuição dos efeitos de genearcas e de famílias sobre a probabilidade de permanência em rebanhos da raça Nelore / Breeders and family effects in stayability in Nellore herds

Foram preditas diferenças esperadas na progênie para probabilidade de permanência no rebanho (stayability) de 4180 touros com filhas na base de dados do Programa de Melhoramento Genético da Raça Nelore, utilizando-se modelo de limiar unicaráter de touro-avô materno, sob metodologia bayesiana. Os touros foram classificados em ordem decrescente e aqueles com diferenças esperadas na progênie acima de 57,6 por cento, considerados como TOP1 por cento, foram analisados quanto à genealogia visando avaliar a existência de efeito de família, bem como a contribuição dos genearcas e ancestrais da raça Nelore para a característica considerada. Os principais fundadores, que juntos somaram 18,8 por cento dos genes presentes nos touros TOP1 por cento, foram Karvadi IMP (com 8,2 por cento dos genes, essencialmente via seu filho Chummak), Godhavari IMP (com 6 por cento de contribuição, via Kurupathy e Neófito), Rastã IMP e Falo da BV (2,5 e 2,1 por cento, respectivamente, via materna, pois não apresentaram parentesco com touros ancestrais). O touro Rolex, da variedade mocha, esteve presente em 12 linhas (maternas ou paternas), via seu neto Cardeal. Dos sete ancestrais da raça Nelore com maiores contribuições genéticas (que somaram 15,3 por cento dos genes), cinco foram da variedade mocha. Somente 28 animais aportaram 50 por cento da variabilidade genética, evidenciando o baixo número de animais utilizados como reprodutores na raça Nelore

Expected progeny differences (EPD) for stayability were estimated for 4,180 sires with daughters in the Program for Genetic Improvement of the Nellore Breed. The univariate threshold sire-maternal grandsire model was used, following a Bayesian methodology. The sires were ranked for stayability in descending order, and those whose EPD were higher than 57.6 percent were regarded as TOP1 percent. Pedigree analysis was then conducted in order to establish whether a family tendency was present, as well as the contribution of Nellore founders and ancestors for the trait under consideration. The main founders, which together were responsible for 18.8 percent of the genes in TOP1 percent sires, were Karvadi IMP (with 8.2 percent of genes, basically through its son Chummak), Godhavari IMP (with 6 percent of genes, through Kurupathy and Neofito), Rastã IMP and Falo da BV (respectively with 2.5 percent and 2.1 percent, through mothers, since they are not related to the ancestor sires). Rolex, a polled sire, stayed in twelve lineages - paternal or maternal - through its grandson Cardeal. Among the seven Nellore ancestors with the highest genetic contributions (15.3 percent of genes when put together), five were of the polled variety. Only 28 animals apportioned 50 percent of the total genetic variability, which is indicative of the small number of animals used as Nellore reproducers