Ye Juan, Zhang Huina, Zhou Yandan, Wu Han, Wang Changjun, Shi Xin
Department of Ophthalmology, the 2nd Affiliated Hospital of Zhejiang University, College of Medicine, Hangzhou, Zhejiang, China.
Mol Vis. 2011;17:1350-4. Epub 2011 May 25.
To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).
Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR. Mutations were screened by DNA sequencing. Photographs of deceased family members were examined for signs of OPMD.
Clinical features of OPMD were found in all patients in generation II except the youngest sister, and no clinical manifestations were found in generation III. Mutation sequencing demonstrated that (GCG)₆ in the wild PABPN1 gene was expanded to heterozygous (GCG)₁₁ in all affected family members and in some but not all unaffected members.
In a Chinese family with autosomal dominantly inherited OPMD, a heterozygous (GCG)₁₁ expansion was identified in all affected family members and in several young unaffected members.
在一个患常染色体显性遗传性眼咽型肌营养不良症（OPMD）的中国家系中，鉴定聚腺苷酸结合蛋白核1基因（PABPN1，以前称为PABP2）的突变情况。
对三代在世的家庭成员进行临床和眼科检查。从每个在世家庭成员的外周血白细胞中提取基因组DNA，通过聚合酶链反应（PCR）扩增PABPN1基因（GCG）n侧翼的片段。通过DNA测序筛选突变。检查已故家庭成员的照片，寻找OPMD的体征。
除最年幼的妹妹外，第二代所有患者均有OPMD的临床特征，第三代未发现临床表现。突变测序表明，野生型PABPN1基因中的（GCG）₆在所有患病家庭成员以及部分（但并非全部）未患病成员中扩展为杂合的（GCG）₁₁。
在一个患常染色体显性遗传性OPMD的中国家系中，在所有患病家庭成员以及几名未患病的年轻成员中鉴定出杂合的（GCG）₁₁扩展。
