In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836–0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father–son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database.

Background: The modulatory domain of the human androgen receptor (AR) gene contains a polymorphic CAG repeat coding for a polyglutamine tract which is inversely correlated with transcriptional activity of the AR. Androgens acting through the AR play a crucial role in the pathogenesis of acne vulgaris. We therefore investigated the relationship between CAG repeat polymorphism in the AR gene and acne susceptibility. Methods: 206 acne patients and 200 controls participated in the study. Genomic DNA was extracted from peripheral blood lymphocytes of individual patients, and the CAG repeat region was amplified by polymerase chain reaction (PCR) using fluorescence-labeled primers. Samples were then run on an ABI 377 gene scan analysis gel with an internal molecular-weight marker. Ten male samples were chosen randomly for sequencing to confirm the number of CAG repeats. The 2-sample independent t test was used to analyze the data. Results: The mean number of the CAG repeat in the AR was 22.07 (14–28) in the controls and 20.61 (13–26) in the male acne group. There was a significant correlation between the CAG repeat length and male acne. No significant difference was observed between female patients and their controls. Conclusion: The results suggest that the AR gene CAG repeat polymorphism may be one of the candidate genetic markers for male acne susceptibility in the Han population.

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The genetic structure of 26 identified nationalities from Yunnan Province of China was studied using Y chromosome haplogroups. A total of 12 haplogroups were obtained in 1214 male samples from all the nationalities. The genetic relationships among 26 nationalities were studied. The ethnic groups were compared according to their different ancient lineages. The ancient lineages had their own characteristics in the distribution of Y chromosome haplogroups. Our results showed that Yunnan Province has great genetic diversity in its people. The ethnic groups differ from each other in the number of haplogroups and haplogroup frequencies. The genetic evidence was in agreement with the study of linguistic and historical records.