国际眼科杂志2016，Vol.16Issue(5)：948-951,4.DOI:10.3980/j.issn.1672-5123.2016.5.40
马凡综合征一家系的致病基因筛查
Gene screening in a Chinese family with Marfan syndrome
摘要
Abstract
AlM: To analyze the causative gene mutation for Marfan syndrome ( MFS ) with autosomal dominant hereditary in a Chinese family in Liaoning Province, China. <br> METHODS:Venous blood was collected and candidate gene was selected to design primers according to the clinical phenotype. With genomic polymerase chain reaction ( PCR ) performed, the coding exons and their flanking intron in sequences of candidate gene were sequenced, DNA fragments separated by agarose gel electrophoresis and direct sequencing method was used to determine the pathogenic gene. <br> RESULTS:Phenotype of the proband was presented as ectopic lentis. Sequencing of the coding regions of FBN1 gene showed the presence of a heterozygous A→G transversion at nucleotide 640 in the 7 exon of FBN1 and the missense mutation made for Glycine into Serine (G214S). <br> CONCLUSlON:A heterozygous mutation of FBN1 c. A640G(p. G214S)is responsible for the Marfan syndrome in the four generation Chinese pedigree.关键词
马凡综合征/FBN1基因/突变Key words
Marfan syndrome/FBN1 gene/mutation引用本文复制引用
夏文佼,巩雪,高红,肖伟..马凡综合征一家系的致病基因筛查[J].国际眼科杂志,2016,16(5):948-951,4.基金项目
国家自然科学基金资助项目(No.30973276)@@@@National Natural Science Foundation of China (No.30973276) （No.30973276）
