CAJ | 학술논문

目的对3例眼皮肤白化病(oculocutaneous albinism,OCA)患儿进行分型诊断,并在此基础上开展OCA4产前基因诊断研究,为临床OCA遗传咨询和产前诊断提供指导.方法应用聚合酶链反应及DNA序列测定技术,确定先证者及其父母的基因型后,取绒毛或羊水进行产前基因诊断.结果 3例患儿均为OCA4.家系1患儿母亲后来两次怀孕,第1次诊断为患儿,已选择流产,再次怀孕时诊断为父源G349R致病基因携带者.家系2产前诊断结果显示胎儿既未获得父源突变,也未获得母源突变.家系3产前诊断结果显示胎儿仅获得父源G349R突变.结论检出MATP基因3种已报道的OCA4致病性突变G349R、D160H和P419L,发现1种致病性新突变c,870delC.
목적 대3례안피부백화병(oculocutaneous albinism,OCA)환인진행분형진단,병재차기출상개전OCA4산전기인진단연구,위림상OCA유전자순화산전진단제공지도.방법 응용취합매련반응급DNA서렬측정기술,학정선증자급기부모적기인형후,취융모혹양수진행산전기인진단.결과 3례환인균위OCA4.가계1환인모친후래량차부잉,제1차진단위환인,이선택유산,재차부잉시진단위부원G349R치병기인휴대자.가계2산전진단결과현시태인기미획득부원돌변,야미획득모원돌변.가계3산전진단결과현시태인부획득부원G349R돌변.결론 검출MATP기인3충이보도적OCA4치병성돌변G349R、D160H화P419L,발현1충치병성신돌변c,870delC.
Objective To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China. Methods PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at midpregnancy. Results The three patients were all OCA4, whose genotypes were G349R/c. 870delC, G349R/P419L, G349R/D160H, respectively. The three couples had been diagnosed as carriers. In family 1, the first fetus was diagnosed as affected. Termination of pregnancy was opted following genetic counseling. The second fetus (monozygotic twin) was heterozygous only with the paternal G349R mutation. The fetus in family 2 did not get either one of the two mutations. The fetus in family 3 was heterozygous only with the paternal G349R mutation. Conclusion This study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c. 870delC. The prenatal gene diagnosis of OCA4 will be important to prevent the birth of affected child.