Worldwide distribution of human Y-chromosome haplotypes.

Abstract

We surveyed several human populations worldwide with three PCR-based polymorphisms located in the human Y chromosome: the alphoid heteroduplex [c~h} polymorphic system, the DYSI9 microsatellke locus, and a polymorphic A/u insertion {YAP}. By typing with the former two polymorphisms {oLh and DYSIg} we found 46 different haplotypes in 364 males from several populations worldwide. There were significant geographic differences in the distribution of the haplotypes, several of which were seen in only one population and can be used as populational markers in future surveys. The haplotypic diversity in major ethnic groups revealed high levels in Greater Asians, followed by Africans and Caucasians, and a very low diversity was seen in Amerindians. The discrimination probability of such haplotypes for a random sample of Brazilian Caucasians was 0.82, suggesting great potential usefulness in forensic studies. The parsimonious relationship between different c~h types and the addition of the YAP polymorphism data allowed the construction of an informative picture of the origin and evolution of the c~h polymorphism. The DYSI9 allele diversity related to each c~h type allowed a crude estimation of the antiquity of many oLh types. These ancient oLh types were present in different populations suggesting a common ancestor that could antedate the first out-of-Africa migrations.

Patterns of male‐specific inter‐population divergence in Europe, West Asia and North Africa

“…In our survey we confirm the presence of minor groups of YAPj\alphoid HindIIIk chromosomes (Santos et al 1996 ;Malaspina et al 1998 ;Scozzari et al 1999) that can be explained by recurrent loss of alphoid units with HindIII site.…”

“…This can be explained through a low rate of recurrence of the loss of alphoid units containing the HindIII site (Santos et al 1996 ;Scozzari et al 1999). The three combinations YAPk\HindIIIj, YAPj\ HindIIIj and YAPk\HindIIIk are referred to as frames 1, 2 and 3, respectively (Persichetti et al 1992) ; overall, 824, 233 and 742 chromosomes were in turn assigned to these frames (Table 1).…”

Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males

“…The procedure for detection of the 50f2/C polymorphic deletion has been described elsewhere (Jobling et al 1996). The PCR products were resolved in 6% polyacrylamide gels and silver-stained in accordance with Santos et al (1996).…”

Tracing the origin of our species through palaeogenomics

“…The first one postulates that the ancestors of present-day humans had evolved in Africa and then replaced all other human populations when colonizing the planet (e.g., [20,21]. At the end of the 1980s, this hypothesis obtained an important support through the genetic studies of mitochondrial DNA and the Y chromosome in present-day human populations [22][23][24]. These results were interpreted according to the formulation of an "African Mitochondrial Eve" who would have lived 200,000 years ago, and an "African Adam" who would have lived 130,000 to 150,000 years ago.…”