李宣佑Li, Shuan-Yow曾三立Tseng, Shan-LiShan-LiTseng醫學研究所2026-10-289999-12-311998https://handle.ncl.edu.tw/11296/kz8ae4https://scholars.csmu.edu.tw/handle/123456789/34953根據研究資料顯示造成不孕的原因中有25~40%是由於男性因素（male factor）所引起 〔Hornstein et al., 1996〕。造成男性不孕症的原因雖多但絕大部份是和精子的數目、型態及運動功能有關。　　目前的研究資料顯示Y染色體在精子生成過程中扮演相當重要的角色；傳統的染色體檢查（cytogenetic）雖發現男性不孕患者有較高的染色體異常率，但對於由Y染色體微缺失(microdeletion）所造成的無精子症及寡精子症，染色體檢查往往無法有任何的助益。　　本研究主要針對58位非阻塞性無精子症（non-obstructive azoospermia）及32位寡精子症進行細胞染色體檢查，並於Y染色體q arm 的 euchromatin 區域進行 multiplex-PCR screening 以期發現 microdeletion。　　在細胞染色體檢查方面於無精子患者中發現4位（4/58）47, XXY的染色體異常，於寡精子患者群中發現1位（1/32）的染色體異常－45, XY, der(14;15)(q10; q10)，本次研究中全部男性不孕症患者其染色體異常率為5.6%；且發現無精子患者的染色體異常大於寡精子症患者的染色體異常率。至於microdeletion 的檢查方面亦於無精子患者中發現5位（5/58）於AZF區有程度不一的斷裂缺失。　　本研究由於採用multiplex-PCR的方法可以節省大量的時間及藥劑，並達成快速診斷的目的，並將由於染色體、基因之原因所導致不孕之診斷率由原來染色體檢查的6.9%(4/58)提高到15.5%(9/58)。可見到無精子症及寡精子症的男性不孕症患者，如於接受cytogenetic檢查外再接受AZF microdeletion的PCR screenting，對欲接受人工協助生殖技術以達成擁有下一代的夢想的不孕症患者，將可提供更理想的治療方法及完整的遺傳諮詢。Approximately 25 to 40% of infertility is caused by male factor. The major clinical manifestation of infertility with male factor is poor semen quality. Azoospermia and oligozoospermia are popular in infertile men. Infertile men are found to have chromosomal abnormalities, with the incidence increasing as the sperm count decreases. However, cytogenetic study provides little information about azoospermia and oligozoospermia caused by microdeletion of the AZF region.　　58 patients with non-obstructive azoospermia and 32 patients with oligozoospermia were included in this study. Cytogenetic investigation and AZF region microdeletion screenting were performed. Multiplex polymerase chain reaction (PCR) was empolyed for detection of AZF region microdeletion analysis. The sequence-tagged-site (STS) primers that cover the entire length of the euchromatic region in the long arm of Ychromosome were used.　　In azoospermia group, 4(4/58) with 47, XXY karyotype were noted. One with 45, XY, der(14;15)(q10;q10) karyotype was found in oligozoospermia. Five patients of azoospermia with normal karyotype have diverse AZF region microdeletion. Cytogenetic investigation combining with multiplex PCR screening on AZF improves the detection rate on azoospermia and oligozoospermia contributed to an understanding of the genetic etiology.　　Some infertile men can achieve pregnancy by assisted reproductive technology(ART).Therefore, cytogenetic investigation and AZF region multiplex PCR screening can provide more information for genetic counselling.無精子症基因thesis