一个中国B1型短指家系致病基因的突变分析

doi:10.3724/SP.J.1005.2011.00147

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HEREDITAS ›› 2011, Vol. 33 ›› Issue (2): 147-152.doi: 10.3724/SP.J.1005.2011.00147

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Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1

LI Cong-Min¹, WANG Feng-Yu¹, SUN Wei-Wei², HAN Shu-Li³, CHANG Ming-Xiu¹, FENG Hui-Gen²

1. Henan Provincial Research Institute of Population and Family Planning, Henan Key Laboratory of Intervention Technology for Birth Defects, Zhengzhou 450002, China ;
2. Department of Life Science and Technology, Xinxiang Medical College, Xinxiang 453000, China 3. Service Station of Family Planning in Huaxian of Henan, Huaxian 456400, China

Received:2010-07-06 Revised:2010-09-03 Online:2011-02-20 Published:2011-02-25
Contact: CHANG Ming-Xiu E-mail:changmingxiu@163.com

Abstract

Abstract: We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 (BDB1). Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot of ROR2 gene was amplified by polymerase chain reaction (PCR) and sequenced directly. A c.2265C>A heterozygous mutation was detected in all of the patients. This mutation led to the change of p.Y755X in protein level and a truncated ROR2 protein losing integrant domains was generated. The mutation was detected in all the patients, but not in all the normal individuals of this family and 50 normal controls. This paper for the first time reported a c.2265C>A mutation in ROR2 gene of a family with BDB1 in China, which enriches ROR2 gene mutation spectrum in Chinese with BDB1.

Key words: Brachydactyly type B1, ROR2 gene, p.Y755X, ROR2 protein

LI Cong-Min, WANG Feng-Hu, SUN Wei-Wei, HAN Chu-Li, CHANG Meng-Xiu, FENG Hui-Gen. Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1[J]. HEREDITAS, 2011, 33(2): 147-152.

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Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1

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