[来自一个近亲结婚家庭的IV型眼皮肤白化病患者MATP基因新致病突变的鉴定]
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].
作者信息
Xu Bei, Pang Ting, Yao Cui-qun, Zhang Li-yun, Zheng Hui, Jiang Wei-ying, Li Hong-yi
机构信息
Department of Medical Genetics, School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
出版信息
Zhonghua Yi Xue Za Zhi. 2012 Jan 31;92(4):254-8.
OBJECTIVE
To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family.
METHODS
Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplification techniques (PCR-Walking), multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family.
RESULTS
A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 (± 2) to c.885 + 4923 (± 2). The patient was homozygous for deletion mutation.
CONCLUSION
A large deletion mutation was first detected and identified in OCA4.
目的
明确来自近亲结婚家庭的一名眼皮肤白化病（OCA）患者的致病相关基因及其突变情况。
方法
采用聚合酶链反应（PCR）和自动DNA测序方法、通过PCR扩增技术进行染色体步移（PCR-Walking）、在单个PCR管中使用3条引物跨越断点的多重PCR（Gap-PCR）以及生物信息学分析，对该患者及其家族中的突变进行筛查并鉴定新的突变。
结果
在MATP基因中发现了一个6365 bp的致病性缺失，范围为c.562 - 1118（±2）至c.885 + 4923（±2）。该患者为缺失突变的纯合子。
结论
首次在OCA4中检测并鉴定出一个大片段缺失突变。
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