మాలిక్యులర్ మరియు జెనెటిక్ మెడిసిన్

Population stratification and its influence on genetic association studies is a controversial topic. Although it has been suggested that stratification is unlikely to bias the results of association studies conducted in developed countries, convincing contrary empirical evidence has been published. However, it is in populations where historical ethnic, religious and language barriers exist that community subdivisions will predictably exert greatest genetic effect, and influence the organization of association studies. In many of the populations of the Indian sub-continent, these basic population divisions are compounded by a strict tradition of intracommunity marriage and by marriage between close biological relatives. Data on the very significant levels of genetic diversity that characterize the populations of India and Pakistan, with some 50,000-60,000 caste and non-caste communities in India, and average first cousin marriage rates of 40%-50% in Pakistan, are presented and discussed. Under these circumstances, failure to explicitly control for caste/biraderi membership and the presence of consanguinity could seriously jeopardize, and may totally invalidate, the results of association/case control studies and clinical trials

The Y-chromosome is responsible for sex determination in mammals, which is triggered by the expression of the SRY gene, a testis-determining factor. This particular gene, as well as other genes related to male fertility, are located in the non-recombining portion of the Y (NRY), a specific region that encompasses 95% of the human Y-chromosome. The other 5% is composed of the pseudo-autosomal regions (PARs) at the tips of Yp and Yq, a X-chromosome homologous region used during male meiosis for the correct pairing of sexual chromosomes. Despite of the large size of the human NRY (about 60 Mb), only a few active genes are found in this region, most of which are related to fertility. Recently, several male fertility dysfunctions were associated to microdeletions by STS mapping. Now that the complete genetic map of the human Y-chromosome is available, the role of particular NRY genes in fertility dysfunctions is being investigated. Besides, along with the description of several nucleotide and structural variations in the Y-chromosome, the association between phenotype and genotype is being addressed more precisely. Particularly, several research groups are investigating the association between Y-chromosome types and susceptibility to certain male dysfunctions in different population backgrounds. New insights on the role of the Y-chromosome and maleness are being envisaged by this approach

?????? ????? (Cl-/HCO3 -) ??????????? 1 (kAE1 ???? ??????? 3) ???‌??????? SLC4A1 (AE1) ????? ????????????? ???????? ????????? (AD) ???? ???????? ???????? (AR) ??? ????????? ??????? ????????? (dRTA)?? ????????????. SLC4A1 ??????????????? ????????????? ??????????? ?????????‌?? ? ???????? ??????? ????????? ????????????, ??? ??????? ????? ??????? ???? ???????‌??? ????????? ?????????????????????. ????? ????????‌?????? ???????‌?? ?????? ???? ????????? ????????? ????? ???? ??????? ???????????????? kAE1 R589H, R901X ????? S613F, ???????? ????-????????? ????? ????????? ?????? ?????????????? ?????????? (ER) ????????????? ?????? ?????????? ??????????????, ????? ??????? ???????????????? kAE1 R609 -???????? ????????? ??????‌?? ?????????? ??????????‌?? ???? ?????? ??????????‌?? ????????? ???????????. ???????-???????? ??????? ??????? ???????? ????? ???????, ???????? kAE1 ???????????????? ???????????‌?? ????? ??????-???? ????????‌?? ????????? ????? ?????????. ??????? ???????????????? kAE1 G701D ????? S773P ????? ??????????? ????? ????? ??????? ??????????????. kAE1 G701D ??????????? ?????? ???????? ????? ???????????, ????? ??????? ?????????? kAE1 S773P, ER ??????????? ??????????? ????? ?????????? ?????? ??????? ??????????, ??? ?????? ???? ????? ?????????? ????? ?????????? ??????? ?????? ???????????. ??????? ??????????? kAE1?? ??????????, ??????? ??????????? kAE1 ????? ??????-???? kAE1 ????? ???????????‌?? ???????? ????? ???????? ???????. ??????-???? kAE1 ???????? ????????? kAE1?? ????????? '?????????-???????? ???????'?? ??????????????? ???????? ??? ?? ??????? ???? ??????????????? ?????? ???????? ????? ??????????? ?????? ????????‌??? ???????????. ???????????, ?????? ???????? ????? ???????? ???? ????????? ???? ???????? ??????????? ???????? ?????????‌?? ?????. dRTA ????? ???? ???????? ????????? ???????????? ???? ??? ? ?????? ????? ??????????????? ????? ????????????? ???????????.