[在中国一个患有2型先天性眼外肌纤维化的家族中鉴定出一种新的PHOX2A基因突变]
[Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2].
作者信息
Dong Jia-mei, Shen Qin, Li Jing, Du Wei, Pang Hong-lei, Lin Shu-fang, Bu Juan
机构信息
Department of Cardiology, Party School of Central Committee of C.P.C., Peking University Third Hospital, Beijing 100091, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Feb;29(1):5-8. doi: 10.3760/cma.j.issn.1003-9406.2012.01.002.
OBJECTIVE
To investigate potential mutation of PHOX2A (or ARIX) gene in a Chinese family affected with congenital fibrosis of extraocular muscles tyep 2 (CFEOM2).
METHODS
Genomic DNA was obtained from affected and unaffected members of the family. With an ABI PRSIM Linkage Mapping Set-MD10 kit, selected markers flanking the PHOX2A locus were used for linkage analysis. Exons of PHOX2 gene were amplified and sequenced. A total of 100 normal subjects were recruited as controls.
RESULTS
Genetic linkage was found at 11q13 between D11S4151 and D11S1320 and the PHOX2A gene. DNA sequencing has identified a heterozygous mutation in the exon 2 of the gene (227T to G, N76K). The same mutation was not found in the unaffected and 100 normal controls.
CONCLUSION
A mutation of the PHOX2A gene 227T to G is responsible for the onset of congenital fibrosis of extraocular muscles type 2 in this Chinese family.
目的
研究一个患有2型先天性眼外肌纤维化（CFEOM2）的中国家系中PHOX2A（或ARIX）基因的潜在突变。
方法
从该家系的患病和未患病成员中获取基因组DNA。使用ABI PRSIM连锁图谱集-MD10试剂盒，对PHOX2A基因座两侧的选定标记进行连锁分析。对PHOX2基因的外显子进行扩增和测序。共招募100名正常受试者作为对照。
结果
在11q13的D11S4151和D11S1320之间发现了与PHOX2A基因的遗传连锁。DNA测序已确定该基因外显子2存在杂合突变（227T突变为G，N76K）。在未患病成员和100名正常对照中未发现相同突变。
结论
该中国家系中PHOX2A基因227T突变为G是导致2型先天性眼外肌纤维化发病的原因。
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