Pang Ting, Lei Jie, Zheng Hui, Xu Bei, Jiang Wei-ying, Li Hong-yi
Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):1-5. doi: 10.3760/cma.j.issn.1003-9406.2011.01.001.
To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China.
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 mid-pregnancy.
The three patients were all OCA4, whose genotypes were G349R/c.870delC, G349R/P419L and 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.
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.
为中国眼皮肤白化病（OCA）的临床遗传咨询和产前诊断提供指导。
应用聚合酶链反应（PCR）和自动DNA测序技术，获取三个中国白化病家系患者及其父母的基因型。在孕早期通过绒毛取样（CVS）或孕中期通过羊膜腔穿刺术进行产前基因诊断。
三名患者均为OCA4型，其基因型分别为G349R/c.870delC、G349R/P419L和G349R/D160H。三对夫妇均被诊断为携带者。在家庭1中，第一个胎儿被诊断为患病。经遗传咨询后选择终止妊娠。第二个胎儿（单卵双胞胎）仅携带父源G349R突变的杂合子。家庭2中的胎儿未获得两种突变中的任何一种。家庭3中的胎儿仅携带父源G349R突变的杂合子。
本研究检测到膜相关转运蛋白基因（MATP）的三种已报道的致病突变，包括G349R、D160H和P419L，并鉴定出一种新的致病突变c.870delC。OCA4的产前基因诊断对于预防患病儿童的出生具有重要意义。
