【摘 要】
：
目的 严重联合免疫缺陷病(severe combined immunodeficiency,SCID)为一组由不同基因异常所致严重T细胞缺乏或功能异常,并伴随B细胞功能异常的疾病.X-连锁严重联合免疫缺陷病(X-linked severe combined immunodeficiency,X-SCID)是最常见的SCID类型,本研究对一个确定患儿已故的疑为X-连锁严重联合免疫缺陷病1家系成员IL
【出 处】
：
中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议
论文部分内容阅读
目的 严重联合免疫缺陷病(severe combined immunodeficiency,SCID)为一组由不同基因异常所致严重T细胞缺乏或功能异常,并伴随B细胞功能异常的疾病.X-连锁严重联合免疫缺陷病(X-linked severe combined immunodeficiency,X-SCID)是最常见的SCID类型,本研究对一个确定患儿已故的疑为X-连锁严重联合免疫缺陷病1家系成员IL2RG基因进行突变筛查并探索采用DNA测序进行产前诊断的可行性.方法 签署知情同意书后,采集已故患儿的父母外周血标本及妊娠11周时的胎儿绒毛标本,常规提取基因组DNA,用聚合酶链反应扩增产物,采用双向直接测序方法,检测IL2RG基因8个外显子编码区及旁侧非编码区序列突变.结果 已故患儿母亲携带IL2RG基因c.690C＞T(R226C)杂合突变,位于第5个外显子CpG处,cDNA的690位点处碱基C被T替换,导致第226位编码氨基酸由精氨酸变为半胱氨酸(R226C),推测已故患儿也存在相同的1L2RG基因突变.患儿母亲再次妊娠时行产前诊断确定为男性胎儿,未携带该突变；第三次妊娠又行产前诊断,确定妊娠一女性胎儿,且为杂合突变携带者,2名胎儿出生后1年随访结果与产前诊断结果一致.结论 本研究确定一个X-SCID家系IL2RG基因c.690C＞T(R226C)突变为该家系的致病突变并完成两次妊娠的产前诊断.测序分析结合性别鉴定可对患者已故的X-连锁严重联合免疫缺陷病家系行有效的携带者筛查及产前诊断.
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