中华眼科杂志
中華眼科雜誌
중화안과잡지
Chinese Journal of Ophthalmology
2015年
5期
360-363
,共4页
梅利斌%黄燕茹%潘乾%梁德生%邬玲仟
梅利斌%黃燕茹%潘乾%樑德生%鄔玲仟
매리빈%황연여%반건%량덕생%오령천
盲%神经系统疾病%痉挛,婴儿%眼蛋白质类%神经组织蛋白质类%外显子%突变,误义
盲%神經繫統疾病%痙攣,嬰兒%眼蛋白質類%神經組織蛋白質類%外顯子%突變,誤義
맹%신경계통질병%경련,영인%안단백질류%신경조직단백질류%외현자%돌변,오의
Blindness%Nervous system diseases%Spasms,infantile%Eye proteins%Nerve tissue proteins%Exons%Mutation,missense
目的 研究一个X连锁隐性遗传诺里病家系NDP基因突变情况.方法 收集诺里病先证者及其家系成员临床资料,完善眼科检查,对家系共35名成员的外周血抽提基因组DNA,PCR扩增NDP基因外显子及其侧翼序列,产物纯化后直接进行DNA测序.结果 家系中患者NDP基因第3号外显子存在c.362 G＞A错义突变(p.R121Q).结论 NDP基因c.362 G＞A错义突变是导致该家系出现诺里病的原因.基因突变检测可以为家系成员提供准确的遗传咨询及产前诊断.
目的 研究一箇X連鎖隱性遺傳諾裏病傢繫NDP基因突變情況.方法 收集諾裏病先證者及其傢繫成員臨床資料,完善眼科檢查,對傢繫共35名成員的外週血抽提基因組DNA,PCR擴增NDP基因外顯子及其側翼序列,產物純化後直接進行DNA測序.結果 傢繫中患者NDP基因第3號外顯子存在c.362 G＞A錯義突變(p.R121Q).結論 NDP基因c.362 G＞A錯義突變是導緻該傢繫齣現諾裏病的原因.基因突變檢測可以為傢繫成員提供準確的遺傳咨詢及產前診斷.
목적 연구일개X련쇄은성유전낙리병가계NDP기인돌변정황.방법 수집낙리병선증자급기가계성원림상자료,완선안과검사,대가계공35명성원적외주혈추제기인조DNA,PCR확증NDP기인외현자급기측익서렬,산물순화후직접진행DNA측서.결과 가계중환자NDP기인제3호외현자존재c.362 G＞A착의돌변(p.R121Q).결론 NDP기인c.362 G＞A착의돌변시도치해가계출현낙리병적원인.기인돌변검측가이위가계성원제공준학적유전자순급산전진단.
Objective The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features.Methods Clinical data of the proband and his family members were collected.Complete ophthalmic examinations were carried out on the proband.Genomic DNA was extracted from peripheral blood leukocytes of 35 family members.Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions.Results A hemizygous NDP missense mutation c.362G＞A (p.Arg121Gln) in exon 3 was identified in the affected members,but not in any of the unaffected family individuals.Conclusions The missense mutation c.362G＞A in NDP is responsible for the Norrie disease in this family.This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.
