DAZ基因在无、少精症患者血液、精液中的缺失研究

Deletion of DAZ gene in blood and semen of infertile males with azoospermia and oligozoospermia

目的 通过检测无、少精症不育患者血液、精液基因组DAZ基因缺失情况 ,探讨其病因的基因诊断方法。方法 选择 35例特发性无、少精症患者作为研究对象 ,其中少精症 18例、严重少精症 12例、无精症 5例 ;10例正常已生育健康男性作为正常对照。应用PCR技术 ,检测血液、精液基因组中与Y染色体连锁的DAZ(SY 2 5 4 )基因缺失情况。结果 35例患者中 5例表现血液、精液基因组SY 2 5 4基因微缺失 ,其中少精症 2例 ,严重少精症 3例 ;其余 30例患者和 10例正常对照血液、精液基因组未见SY 2 5 4基因微缺失或存在表达一致 ,在部分无、少精症患者进行Y染色体微缺失筛查 。

Objective To identify the microdeletion of DAZ gene in genomic DNA from blood and semen of infertile men with azoospermia and oligozoospermia,and develop a screening method of gene diagnosis for male infertility. Mehods Thirty-five patients with idiopathic azoospermia and oligozoospermia were recruited for analysis,of whom 18 were with azoospermia,12 severe oligozoospermia,and 5 oligozoospermia.Ten normal fertile males were used as controls.Polymerase chain reaction was performed in genomic DNA of semen and blood.DAZ(SY254) gene mapped on Y chromosome was selected. Results Microdeletion of SY 254 was observed in the blood and semen of 5 infertile patients,of whom 2 with oligozoospermia and 3 with severe oligozoospermia.No such deletion was observed in other infertile patients and 10 normal fertile men. Concluslon The deletion of SY 254 gene in blood genomic DNA is similar to that in semen.Peripheral blood can replace semen in detection of Y chromosome microdeletion in patients with azoospermia and oligozoospermia.