三聯核酸重複序列和人類無精子症與寡精子症的相關性研究

不孕症約佔百分之十左右，其中約有百分之二十問題出在男生身上，百分之二十七是男女雙方都有問題。也就是說約有將近四成七的不孕症夫妻需要解決男生方面的問題 (de Kretser,1997)。在顯微精蟲注入卵子細胞質內的技術未成熟之前，除少數情形外，現代醫學幾乎是束手無策。但是顯微精蟲注入卵子細胞質內的技術 (ICSI)，可說將這部份一次解決。但是否會導致一些遺傳疾病藉由此散怖出去呢？ 本實驗收集五十六個無精子症以及三十四個寡精子症的患者探討其在底下三種三聯核酸重複序列中是否有變異的現象。這三種基因分別為細胞核攜帶之粒線體去氧核醣核酸聚合，小腦脊髓萎縮症第一型與第三型的基因。 實驗結果顯示寡精子症的病人有一例發現在細胞核攜帶之粒線體去氧核醣核酸聚合的重複序列上的數目有減少的情形，有一例在小腦脊髓萎縮症第一型有比正常組高出的情形且整組擴增序列有顯著偏多，在小腦脊髓萎縮症第三型則無明顯差異。 本實驗利用螢光標定聚合連鎖反應產物的方法，可以迅速獲得三聯核酸重複序列的長度。除可避免傳統方法的耗時和輻射，也提供不孕症夫妻在遺傳諮詢上的重要參考。

The incidence of infertility is about 10%. About 20% of cases are due to male problems and 27% are problems from both. Thus male infertility may be response to nearly half of causes (de Kretser, 1997). Before intracytoplamic sperm injection (ICSI) was developed, we could do nothing with them. But ICSI rescues almost all male problems; some issue comes to be discussed. Are genetic diseases transmitted by this way? We examined 56 azoospermia and 34 oligospermia patients for trinucleotides repeats numbers within 3 different genes. These are nuclear encoding mitochondrial DNA polymerase, spinocerebellar ataxia (SCA) type I and type III. The results shows one case of oligospermia had shorter repeats within nuclear encoding mitochondrial DNA polymerase gene. One case of oligospermia show longer repeats than upper limit of normal control at SCA1 gene and there are significant of the large normal CAG repeats between normal and oligospermia group. No different is found at SCA3 gene. We use fluorescent tagged polymerase chain reaction (PCR) product to provide fast and no radiation method than before. It gives the opportunity to examine the genetic background for male infertility before ICSI procedure. And the couples would get the adequate genetic counseling.