Analysis of HumFABP2 as a polymorphic human genetic marker in the Turkish population.

OBJECTIVE: To examine the allele frequencies of HumFABP2 locus in 155 individuals from different regions of Turkey. METHODS: The study was carried out in Cumhuriyet University Hospital, Sivas, Turkey, between March and June 2006. The allele and genotype frequencies for HumFABP2 were determined by polymerase chain reaction (PCR) using the manufacturer's recommended protocol, and using the commercially available Macherey-Nagel DNA isolation kit. The PCR amplification was carried out in a Perkin-Elmer GeneAmp PCR System 9600 thermal cycler following the manufacturer's recommendations. The allele frequencies in the Turkish population was computed, and the heterozygote rate was calculated. RESULTS: In this population study of 155 samples, we found 75 (48.39%) heterozygote and 80 (51.61%) homozygote. The results showed heterozygotic cases as 150/250 bp, and homozygotic cases as 150 bp. CONCLUSION: Allele frequency data of HumFABP2 as a PCR-based genetic marker could be used in identity testing to estimate the frequency of a multiple PCR based profile in the Turkish population.

SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach.

AIM: The aim of this study was to identify the genetic effects of Y chromosome and azoospermia factor (AZF) gene variation in men with infertility and to elucidate the molecular mechanism responsible for the identified point mutation. METHODS: Chromosome analysis was performed according to standard methods on lymphocyte cultured cells and genomic DNA was extracted from the peripheral blood. Three sets of primers were used encompassing the AZFb, AZFc and SRY14 gene regions. Products were genotyped with single-strand comformational polymorphisim (SSCP) analysis. RESULTS: The profiles of the mutated genes were detected in five of three azoospermic and two oligoasthenozoospermic infertile males. The SSCP variability of the AZFc gene was detected in all of the cases, while sex-determining region Y (SRY) gene variation was detected in two of the current cases. Three cases with oligoasthenozoospermia showed mutated SSCP profiles in both their SRY and AZFc gene regions. No AZFb variation was detected in the presented cases. CONCLUSION: The AZF locus is assumed to contain the genes responsible for spermatogenesis in human. Deletions in these genes are thought to be involved in male infertility associated with azoospermia, oligozoospermia and/or both. AZF microdeletions and variations that are seen in infertile males suggest the need for molecular screening of such cases. Advance studies are also needed to detect of these variations and their relevance to male infertility before using assisted reproduction techniques in such cases.