Objective To evaluate the relationship between the number of copies of genes and congenital diaphragmatic hernia by the detection of multiple loci in infants with congenital diaphragmatic hernia. Methods Multiple loci were analyzed by Microarray analysis of Affymetrix Cytoscan 750 k in 11 neonates with congenital diaphragmatic hernia, in whom 1 case was twins,and his fraternal twins were diagnosed of fetuse intestinal dilatation. Results A homozygous deletion (8 p11.22 arr[hg19]) was found in one neonate with congenital diaphragmatic hernia, and was eventually confirmed that the depolymerization of the biotin and metalloprotease (ADAM) 3A genes lead to homozygous deletion of the 1～15 exon. Conclusion The alteration of ADAM3A copy number may be the cause of congenital diaphragmatic hernia.%目的 通过对先天性膈疝胎儿多基因位点的检测,评价基因拷贝数变化与胎儿先天性膈疝之间的关系.方法 采用Affymetrix Cytoscan 750 k平台微阵列分析11例先天性膈疝新生儿的多基因位点(其中1例为双胎,其异卵双胞胎兄弟被诊断为胎儿肠扩张).结果 在1例先天性膈疝新生儿中发现一个纯合子缺失,8 p11.22 arr[hg19],并最终证实为解聚素和金属蛋白酶(ADAM)3A基因的1～15外显子发生纯合缺失.结论 ADAM3A拷贝数的改变可能是先天性膈疝的发病原因.
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