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学科主题: 妇产科学
题名:
遗传性多发性骨软骨瘤的基因诊断及产前诊断
其他题名: A new EXT2 mutation in a Chinese family with hereditary multiple exostoses
作者: 赵文秋; 宋书娟; 魏庆; 乔杰
关键词: 遗传性多发性骨软骨瘤 ; EXT2基因 ; 无义突变 ; hereditary multiple exostoses ; EXT2 gene ; nonsense mutation
刊名: 中华医学遗传学杂志
发表日期: 2009
DOI: 10.3760/cma.j.issn.1003-9406.2009.03.001
卷: 26, 期:3, 页:241-244
收录类别: 中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型: Journal Article
摘要: 目的 研究家族遗传性骨软骨瘤病(hereditary multiple exostoses,HME)的致病基因及产前诊断.方法 应用连锁分析方法对一个HME家系EXT1、EXT2和EXT3基因进行分析.致病基因定位后,用PCR-测序法进行了突变分析.结果 在该家系中EXT2基因第6外显子发生1个新的无义突变(c.1006C>T),该突变导致第336位编码谷氨酰胺的密码子CAA变为终止密码子TAA(Gln336X).根据上述结果配合遗传咨询进行了产前诊断,结果显示胎儿正常.结论 在家族遗传性骨软骨瘤家系中发现一新的EXT2基因突变,并应用于产前诊断. Objective Hereditary multiple exostoses (HME) is an autosomai dominant disorder characterized by formation of benign cartilage-capped tumors (exostoses), typically located at the juxtaepiphyseal regions of long bones. It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24. 1, EXT2 on 11p11, and EXT3 on 19p. EXT1 and EXT2 have been cloned and are responsible for over 80% of cases. A Chinese family with HME has been analyzed in the present study. Methods Linkage analysis was firstly performed to determine which of the three EXT genes could be the candidate gene, then mutation screening by PCR and direct sequencing was carried out. Results A novel nonsense mutation (c. 1006C>T) in exon 6 of EXT2, which converts the codon CAA (Gin) to the stop codon (TAA) (Gln336X), was identified. Next, prenatal diagnosis was performed and the pregnancy was determined to be normal. Conclusion A new EXT2 nonsense mutation was found in a Chinese family with hereditary multiple exostoses. The information was used for a case of prenatal diagnosis.
语种: 中文
原文出处: 查看原文
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/69954
Appears in Collections:北京大学第三临床医学院_妇产科_期刊论文

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作者单位: 1.北京大学第三医院妇产科,100083
2.北京大学第三医院医学部医学遗传学系,100083

Recommended Citation:
赵文秋,宋书娟,魏庆,等. 遗传性多发性骨软骨瘤的基因诊断及产前诊断[J]. 中华医学遗传学杂志,2009,26(3):241-244.
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