Wettasinghe Tithila Kalum, Jayasekara Rohan W, Dissanayake Vajira H W
Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Indian J Hum Genet. 2012 Sep;18(3):320-5. doi: 10.4103/0971-6866.107985.
This study was designed to determine the prevalence of azoospermia factor (AZF) microdeletions on the Y chromosome in Sri Lankan Sinhalese infertile men with azoospermia and severe oligozoospermia.
The patient group was 207 karyotypically normal infertile Sinhalese males.
The presence of 13 sequence-tagged site (STS) markers in the AZF region was tested using multiplex polymerase chain reaction (M-PCR). One hundred and twenty unselected men were also studied as a control group.
Three (1.5%) had classic Y chromosome microdeletions in the AZFc sub-region.
These results suggest a much lower Y chromosome microdeletion frequency than previously thought, even among a strictly selected group of sub-fertile males in Sri Lanka.
本研究旨在确定患有无精子症和严重少精子症的斯里兰卡僧伽罗族不育男性Y染色体上无精子症因子（AZF）微缺失的患病率。
患者组为207名核型正常的不育僧伽罗族男性。
使用多重聚合酶链反应（M-PCR）检测AZF区域中13个序列标签位点（STS）标记的存在情况。还对120名未经挑选的男性作为对照组进行了研究。
3人（1.5%）在AZFc亚区域存在典型的Y染色体微缺失。
这些结果表明，即使在斯里兰卡一组经过严格挑选的亚生育男性中，Y染色体微缺失频率也比之前认为的要低得多。
