Gao M, Pang H, Zhao Y-H, Hua J, Tong D, Zhao H, Liu Y, Zhao Y, Zhang M, Yan X-J, Chen H, Ma H-P, Jin T-Y, Dong S-L
Department of Genetics, Shenyang Women's and Children's Hospital, Shenyang, China.
Outpatient Department of Male Infertility, Shenyang Women's and Children's Hospital, Shenyang, China.
Andrologia. 2017 May;49(4). doi: 10.1111/and.12649. Epub 2016 Jul 11.
To explore that it is necessary to routinely detect chromosomes in infertile patients, we investigated peripheral blood lymphocyte karyotype in 16,294 male infertile patients in the north-east of China and analysed the incidence and type of chromosomal anomaly and polymorphism. G-banding karyotype analysis of peripheral blood lymphocytes was performed in 16,294 cases. Semen analysis was performed three times in all the men. PCR and FISH confirmed the presence of the SRY gene. The rate of chromosomal anomaly in the 16,294 male infertile patients was 4.15% (677/16,294). The rates of chromosomal anomaly were 0.24% in normal semen group, 12.6% in light oligoasthenospermia group, 4.7% in moderate-to-severe oligoasthenospermia group and 9.59% in azoospermia group. There are two male infertile patients with 45,X chromosome karyotype. One X male patient had confirmed the presence of the SRY gene and FISH analysis demonstrated its location on the p arm of chromosome 13. The other X male patient had not found SRY gene in its whole-genome DNA. Meanwhile, sperm motility is slightly oligo-asthenozoospermic at the age of 35-39 and nearly azoospermic at the age of 40-45. As the rates of chromosomal anomaly are 0.24% and 12.6% even in normal semen group and light oligoasthenospermia group, the rates of chromosomal polymorphism are 5.36% and 25.51% in normal semen group and light oligoasthenospermia group, respectively; it is necessary to explore peripheral blood lymphocyte karyotype in all infertile couples. We mentioned that Y, 1, 2, 9 and 12 chromosomes were quite important about male infertility. These findings demonstrate that autosomal retention of SRY can be submicroscopic and emphasise the importance of PCR and FISH in the genetic workup of the monosomic X male. At the same time, it suggested that male infertility might be related to meiotic disturbances with spermatogenetic arrest in Y-autosome translocations, which could result in infertility by reduction of sperm production. Last but not least, ageing is one of the factors that could reduce sperm motility and quality.
为探究对不育患者进行染色体常规检测是否必要，我们对中国东北地区16294例男性不育患者的外周血淋巴细胞核型进行了调查，并分析了染色体异常和多态性的发生率及类型。对16294例患者进行了外周血淋巴细胞G显带核型分析。所有男性均进行了三次精液分析。采用聚合酶链反应（PCR）和荧光原位杂交（FISH）技术确认SRY基因的存在。16294例男性不育患者的染色体异常率为4.15%（677/16294）。正常精液组染色体异常率为0.24%，轻度少弱精子症组为12.6%，中度至重度少弱精子症组为4.7%，无精子症组为9.59%。有两名男性不育患者的染色体核型为45,X。一名45,X男性患者经确认存在SRY基因，FISH分析显示其位于13号染色体短臂上。另一名45,X男性患者在其全基因组DNA中未发现SRY基因。同时，35 - 39岁时精子活力为轻度少弱精子症，40 - 45岁时几乎无精子。由于即使在正常精液组和轻度少弱精子症组中染色体异常率分别为0.24%和12.6%，正常精液组和轻度少弱精子症组的染色体多态性率分别为5.36%和25.51%，因此有必要对所有不育夫妇进行外周血淋巴细胞核型分析。我们提到Y、1、2、9和12号染色体对男性不育相当重要。这些发现表明SRY基因的常染色体保留可能是亚显微的，并强调了PCR和FISH在单体X男性基因检查中的重要性。同时，这表明男性不育可能与Y - 常染色体易位导致生精停滞的减数分裂紊乱有关，这可能通过减少精子产生而导致不育。最后但同样重要的是，衰老也是可能降低精子活力和质量的因素之一。
