Sobczyńska-Tomaszewska Agnieszka, Bak Daniel, Wolski Jan Karol, Bablok Leszek, Nawara Magdalena, Mazurczak Tadeusz, Bal Jerzy
Medical Genetics Department, Institute of Mother and Child, Warsaw, Poland.
J Reprod Med. 2006 Feb;51(2):120-7.
To investigate the frequency and potential impact of mutations and polymorphisms in the CFTR gene and deletions in AZF locus of the Y chromosome in patients with azoospermia (AZOO), cryptozoospermia (CRYPTO) or oligoasthenoteratozoospermia (OAT) who were to be included in an assisted reproductive technologies (ART) program.
A total of 188 infertile men were enrolled in the study: 100 patients with AZOO, 38 with CRYPTO and 50 with OAT.
The CFTR gene mutations or IVS8-5T variant in at least 1 allele was identified with similar frequencies among the AZOO (33%) and CRYPTO (21%) patients; 55% of the AZOO patients with normal spermatogenesis (NS) had mutations in 1 or 2 alleles. The novel R810G mutation in exon 13 was identified in 1 NS patient. The OAT or AZOO patients with Sertoli cell only syndrome (SCO) had mutations in the CFTR gene with similar frequencies to that in the general Polish population. The deletions in the AZF locus were detected in 20% of SCO patients, 11.5% of AZOO patients with maturation arrest and in 5% of CRYPTO patients. The other groups (NS, OAT) did not carry deletions in the region studied.
Molecular diagnosis of the CFTR gene, Y chromosome deletion analysis and genetic counseling are necessary diagnostic elements for patients with male infertility, especially if the are included in an ART program.
调查将纳入辅助生殖技术（ART）项目的无精子症（AZOO）、隐匿性精子症（CRYPTO）或少弱畸精子症（OAT）患者中，囊性纤维化跨膜传导调节因子（CFTR）基因突变及多态性的频率和潜在影响，以及Y染色体无精子因子（AZF）位点的缺失情况。
共188名不育男性纳入本研究：100例AZOO患者、38例CRYPTO患者和50例OAT患者。
在AZOO患者（33%）和CRYPTO患者（21%）中，至少1个等位基因的CFTR基因突变或IVS8-5T变异的检出频率相似；55%精子发生正常（NS）的AZOO患者有1个或2个等位基因突变。在1例NS患者中发现了外显子13中的新型R810G突变。OAT或AZOO合并支持细胞综合征（SCO）的患者CFTR基因突变频率与波兰普通人群相似。在20%的SCO患者、11.5%的成熟停滞的AZOO患者和5%的CRYPTO患者中检测到AZF位点缺失。其他组（NS、OAT）在所研究区域未发现缺失。
CFTR基因的分子诊断、Y染色体缺失分析和遗传咨询是男性不育患者必要的诊断要素，特别是对于纳入ART项目的患者。
