P基因的新发突变导致2型眼皮肤白化病并进行产前诊断
[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].
作者信息
Zhang Liyun, Xu Bei, Zhong Yanfang, Chen Xiaofei, Zheng Hui, Jiang Weiying, Li Hongyi
机构信息
Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China.
出版信息
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.
OBJECTIVE
To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.
METHODS
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.
RESULTS
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.
CONCLUSION
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.
目的
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。
方法
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。
结果
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。
结论
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。
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