白化病家系OCA2基因变异分析及产前诊断  

Mutation analysis and prenatal diagnosis of a family with albinism

作　　者：吴轲 朱沅珍 Wu Ke;Zhu Yuanzhen(Prenatal Diganosis Center,Yiwu Maternity and Child Health Care Hospital,Yiwu 322000,Zhejiang,China;Department of Laboratory Medicine,Yiwu Maternity and Child Health Care Hospital,Yiwu 322000,Zhejiang,China)

机构地区：[1]义乌市妇幼保健院产前诊断中心,浙江义乌322000 [2]义乌市妇幼保健院检验科,浙江义乌322000

出　　处：《中国产前诊断杂志（电子版）》2022年第2期50-53,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的通过二代测序技术对1例白化病家系的先证者进行基因变异检测,并分析胎儿基因携带情况,为胎儿提供产前诊断。方法对该家系中白化病患儿进行二代测序,分析相关基因变异情况,孕妇在知情同意后对其羊膜腔穿刺获取羊水,利用Sanger测序验证分析胎儿的基因变异位点。结果先证者的OCA2基因存在2处杂合变异位点(NM_000275.3),一处为c.406C>T(p.R136*)来源于父亲;另一处为c.1560_1562del(p.L521del),来源于母亲。胎儿的OCA2基因变异位点验证结果与先证者一致。结论白化病的危害主要是眼部损害和易患皮肤癌。二代测序技术为白化病患者的产前诊断、遗传咨询和婚育提供技术支持,可以有效地预防重型患儿的出生。Objective Mutations analysis of the pathogenic variants of a family with albinism by nextgeneration sequencing,to detect the genome variants of the fetus and provide genetic prenatal diagnosis.Methods Next-generation sequencing was used to detect and analyze the pathogenic variants of a family with albinism.The gravida signed an informed consent for amniocentesis,amniotic fluid was used for analyzing the genome variation of the fetus by Sanger sequencing.Results The proband had two heterozygous variants of OCA2 gene,one was c.406C>T(p.R136*)(derived from father);another was c.1560_1562del(p.L521del)(derived from mother).The variants of the fetus were the same with the proband,and both parents showed a normal karyotype.Conclusion The major hazard of albinism are eye damage and skin cancer.Next-generation sequencing provides technical support for prenatal diagnosis,genetic counseling and marriage and childbearing of patients with albinism,and also it can effectively prevent and control birth defects.

关 键 词：白化病 OCA2基因 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]