Population and mutation analysis of Y-STR loci in a sample from the city of São Paulo (Brazil)

Genetics and Molecular Biology

José A. Soares-vieira²  Ana E.c. Billerbeck¹  Edna S.m. Iwamura²  Berenice B. Mendonca¹  Leonor Gusmão¹  Paulo A. Otto¹ 

[1] ,Universidade de São Paulo Faculdade de Medicina Departamento de Medicina LegalSão Paulo SP ,Brazil

关键词: Y-STR population data;    São Paulo (Brazil);    mutation rates;    duplications;   

DOI  :  10.1590/S1415-47572008000400009

来源: SciELO

【 摘 要 】

The haplotypes of seven Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) were determined in a sample of 634 healthy Brazilian males (190 adult individuals and 222 father-son pairs). The 412 adults were unrelated, and the 222 father-son pairs had their biological relationship confirmed using autosomal STRs (LR > 10,000). Among the 412 adults, a total of 264 different 7-loci haplotypes were identified, 210 of which were unique. The most frequent haplotype was detected in 31 instances, occurring with a frequency of 7.52%. The haplotype diversity index was calculated as 98.83%. Upon transmission of the 1,554 alleles, in 222 father-son pairs, six mutations were observed, with an average overall rate of 3.86 x 10-3 per locus. A haplotype with a duplicated DYS389I locus, and another with duplicated DYS389I, DYS389II, and DYS439 loci were detected in both fathers and their respective sons.

【 授权许可】

CC BY   
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