[一个患先天性并指/趾畸形的中国家系的遗传学分析]
[Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation].
作者信息
Mei Libin, He Xuemei, Gao Haijie, Huang Yanru, Wu Xiaolin, He Huan, Li Ping
机构信息
Xiamen Key Laboratory of Reproduction and Genetics, Xiamen Maternal and Child Health Care Hospital, Women and Children's Hospital Affiliated to Xiamen University, Fujian 361003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1208-1210. doi: 10.3760/cma.j.cn511374-20200914-00668.
OBJECTIVE
To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.
METHODS
Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.
RESULTS
SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.
CONCLUSION
Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
目的
分析一个先天性手足裂中国家系的分子遗传学。
方法
采用单核苷酸多态性微阵列（SNP阵列）分析全基因组拷贝数变异。
结果
SNP阵列分析显示，在10q24.31-10q24.32区域存在一个433 kb的重复，该区域包含LBX1、BTRC、POLL、OPCD和FBXW4基因。
结论
10q24.31-10q24.32染色体微重复可能是该家系先天性手足裂的病因。
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