ABSTRACT
BACKGROUND: X-linked microsatellites represent an efficient complement of autosomal and Y-chromosomal markers in forensic and kinship analysis. METHODS: DXS337 (n=208), DXS101 (n=208), HPRTB (n=206), DXS8377 (n=220), and DXS7423 (n=213) were genotyped in male and female samples from a Western Mexican Mestizo population using singleplex systems and polyacrylamide gel electrophoresis. RESULTS: Genotype distributions did not deviate from Hardy-Weinberg expectations, and pairwise allele combination analysis was consistent with independent segregation for every marker (p>0.05). Allele frequencies were not different by gender. Differences in allele distribution with respect to Caucasian population data (DXS101, HPRTB, DXS8377, DXS7423) seem attributable to the native Mexican component. For the set of five markers, the combined power of discrimination and the probability of exclusion in paternity tests in trios were greater than 0.999. CONCLUSIONS: The present data reveal that the panel of five X-short tandem repeats analyzed is highly informative in forensic identity and parentage studies in Western Mexico.
Subject(s)
Chromosomes, Human, X/genetics , Microsatellite Repeats/genetics , Female , Gene Frequency , Humans , Male , MexicoABSTRACT
Nine Y-STR (DYS19, DYS390, DYS391, DYS392, DYS446, DYS447, DYS448, DYS456 and DYS458) were analyzed in a male sample of 285 unrelated individuals from Guadalajara, Jalisco, México. The haplotype diversity (0.996) and discrimination capacity (0.986) were calculated. A family study of around 200 father/son pairs and among 1828 meiosis showed five mutational events. All mutations were single step. The overall mutation rate estimated across the nine Y-STRs was 2.7 x 10(-3) (95% CI 1.2-6.4 x 10(-3))/locus/meiosis. The results indicate that these nine loci are useful Y-linked markers for forensic applications.
Subject(s)
Chromosomes, Human, Y/genetics , DNA Mutational Analysis , Ethnicity/genetics , Microsatellite Repeats/genetics , Gene Frequency , Genetic Variation , Genetics, Population , Humans , Male , Mexico/ethnologyABSTRACT
An association between thrombophilic genes and obstetric conditions with early pregnancy termination has been previously proposed. In the present study we attempted to evaluate the possible association between thrombophilic genetic polymorphisms and habitual abortion (HA). Samples from two groups of volunteers were analyzed. The experimental group (n>100) was conformed by women attending the Centro Medico de Occidente, IMSS and their male couples, with a reproductive history ofat least three miscarriages. The reference group (n > 200) was composed by male and female healthy adults living in the state of Jalisco, Mexico. DNA was extracted from peripheral blood, and polymorphisms FII G20210A , FVG1691A, MTHFR C677T, ECA IID y TNF G-308A were typed by PCR-RFLP or -SSP. Genotype proportions in the reference group were in agreement with the HardyWeinberg expectations. Allele, genotype, and phenotype proportion inter-group comparisons did not show statistically significant differences. The present results could not demonstrate that thrombophilic polymorphisms constitute risk factors for HA in Jalisco.
Subject(s)
Abortion, Habitual/genetics , Polymorphism, Genetic , Thrombophilia/genetics , Case-Control Studies , Female , Humans , Male , Pregnancy , Risk FactorsABSTRACT
Se han propuesto factores genéticos trombofílicos asociados con anormalidades obstétricas que implican la terminación temprana del embarazo. El propósito del estudio fue investigar la posible asociación de polimorfismos génicos trombofílicos con el aborto habitual (AH). Se analizaron muestras de dos grupos de personas que participaron voluntariamente en el estudio. El primero (n>100) consistió en mujeres atendidas en el Centro Médico de Occidente del Instituto Mexicano del Seguro Social y a sus parejas, por el antecedente reproductivo de por lo menos tres abortos idiopáticos (n>100). El grupo de referencia (n>200) lo formaron adultos sanos de ambos sexos residentes de Jalisco. El ADN se extrajo de una muestra de sangre periférica y se tipificaron, mediante PCRRFLP o SSP, los polimorfismos FII G20210A, FV G1691A, MTHFR C677T, ECA I/D y TNF G308A. Las proporciones genotípicas en el grupo de referencia fueron similares a las predichas por la ley de HardyWeinberg y las comparaciones intergrupales alélicas, genotípicas y fenotípicas no mostraron diferencias significativas para ninguno de los polimorfismos estudiados. Estos resultados sugieren que los polimorfismos de los genes trombofílicos no representan un factor de riesgo para AH en nuestro medio.
An association between thrombophilic genes and obstetric conditions with early pregnancy termination has been previously proposed. In the present study we attempted to evaluate the possible association between thrombophilic genetic polymorphisms and habitual abortion (HA). Samples from two groups of volunteers were analyzed. The experimental group (n>100) was conformed by women attending the Centro Medico de Occidente, IMSS and their male couples, with a reproductive history ofat least three miscarriages. The reference group (n > 200) was composed by male and female healthy adults living in the state of Jalisco, Mexico. DNA was extracted from peripheral blood, and polymorphisms FII G20210A , FVG1691A, MTHFR C677T, ECA IID y TNF G-308A were typed by PCR-RFLP or -SSP. Genotype proportions in the reference group were in agreement with the HardyWeinberg expectations. Allele, genotype, and phenotype proportion inter-group comparisons did not show statistically significant differences. The present results could not demonstrate that thrombophilic polymorphisms constitute risk factors for HA in Jalisco.
Subject(s)
Humans , Male , Female , Pregnancy , Abortion, Habitual/genetics , Polymorphism, Genetic , Thrombophilia/genetics , Case-Control Studies , Risk FactorsABSTRACT
INTRODUCTION: Down syndrome (DS) or trisomy 21 is the most common chromosomal abnormality in live birth children. Most cases are regular trisomies 21 secondary to a maternal non-disjunction (ND). Meiotic and parental origins have been recently investigated by segregating genetic markers from DNA hypervariable regions. OBJECTIVE: To identify the meiotic and parental origin in children with regular trisomy 21. MATERIALS AND METHODS: There were analyze 20 groups of three (every group included parents and child with Down syndrome). There were used soothe following markers: D21S11, D21S1260, and D21S265. RESULTS: The ND occurred during the first meiotic division (M1) in 13 cases and at the second meiotic division (M2) in the other seven. Twelve out of the 13 NDs from the first group were maternal and one paternal. The parental origin within the M2 group was not elucidated. CONCLUSIONS: Meiotic origin was identified in all cases. As in other reports, the origin of trisomy 21 in the present population is mainly secondary to a maternal ND in M1.
