Zhang Liyun, Xu Bei, Zhong Yanfang, Chen Xiaofei, Zheng Hui, Jiang Weiying, Li Hongyi
Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):318-21. doi: 10.3760/cma.j.issn.1003-9406.2013.03.015.
To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.
To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4 OCA genes in the proband and the P gene of her parents. Prenatal genotyping of the fetus was carried out using amniocentesis sample.
The patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T. Her father was heterozygous for c.2360C> T, whilst her mother has none of the two mutations. c.1327G>A is therefore a maternal de novo mutation. Neither of the mutations was found in the fetus.
A maternally inherited de novo mutation c.1327G>A has been identified in the patient. In order to detect de novo mutations, full sequence analysis is necessary.
确定一个患有眼皮肤白化病（OCA）的家系的基因型，并提供遗传咨询和产前诊断。
通过PCR和测序确定先证者及其父母P基因中4个OCA基因的所有外显子和外显子-内含子连接区的基因型和突变位点。使用羊水样本对胎儿进行产前基因分型。
患者基于c.1327G>A/c.2360C>T基因型被诊断为OCA2。她的父亲是c.2360C>T的杂合子，而她的母亲没有这两种突变。因此，c.1327G>A是一个母系新发突变。在胎儿中未发现这两种突变。
在患者中鉴定出一个母系遗传的新发突变c.1327G>A。为了检测新发突变，进行全序列分析是必要的。
