一个中国汉族皮肤和粘膜多发静脉血管畸形家系的单倍型分析

doi:10.3724/SP.J.1005.2012.00431

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HEREDITAS ›› 2012, Vol. 34 ›› Issue (4): 431-436.doi: 10.3724/SP.J.1005.2012.00431

Haplotype analysis for mucocutaneous venous malformations in a Chinese Han ethnic family

SHU Wei¹, LIN You-Kun², HUA Rong³, LUO Yan-Yan², FANG Lin¹, XU Shu-Ru¹, HE Na², MA Jun¹, HU Qi-Ping¹, LI Xiao-Long¹, YUAN Zhi-Gang¹

1. Department of Cell Biology and Genetics, Guangxi Medical University, Nanning 530021, China 2. Department of Dermatology, The First Affiliated Hospital Of Guangxi Medical University, Nanning 530021, China 3. Research Centre of Population and Family Planning of Guangxi Zhuang Autonomous Region, Nanning 530021, China

Received:2011-08-19 Revised:2011-10-01 Online:2012-04-20 Published:2012-04-25

Abstract

Abstract: A Chinese Han ethnic family with mucocutaneous venous malformations (VMCM) was investigated. This family has autosomal dominantly inherited VMCM in five generations, and the offspring has a 50% risk of this inherited disorder. Affected individuals have small, spongy, and multiple vascular lesions, which often locate in the skin, oral mucosa, and upper and lower extremities. None of the family members had gastrointestinal bleeding, central nervous system in-volvement and cardiac defects. Pathological analysis showed that the veins have irregular vascular space and walls with variable thickness. All phenotypes of the patients displayed the basic characters of VMCM. To analyze the genetic locus and haplotype, genomic DNA of 26 family members was obtained from peripheral leukocytes, and the linkage analysis and haplotypes analysis were performed using microsatellites markers. The results of two-point linkage analysis and haplotype analysis showed that the disease-causing gene located within a 7 cM region between D9S1121 and D9S161 on the short arm of chromosome 9. The study firstly reported the Chinese family with VMCM, which disease-causing gene is located in 9p, consistent with western VMCM families reported. Four flanking markers, D9S1121, D9S169, D9S16 and D9S248, were used to define the linkage haplotypes in the family, which can provide useful in-formaion for researchers to study VMCM in different racial background.

Key words: venous malformation, VMCM, Han ethnic, haplotype

SHU Wei, LIN You-Kun, HUA Rong, LUO Yan-Yan, FANG Lin, XU Shu-Ru, HE Na, MA Jun, HU Qi-Ping, LI Xiao-Long, YUAN Zhi-Gang. Haplotype analysis for mucocutaneous venous malformations in a Chinese Han ethnic family[J]. HEREDITAS, 2012, 34(4): 431-436.

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Haplotype analysis for mucocutaneous venous malformations in a Chinese Han ethnic family

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