The Study Of The Mutation Of 3β-Hydroxysteroid Dehydrogenase (3β-HSD) Gene In A Chinese Family With Adrenocortical Insufficiency

Objective:To detect mutation of 3β-Hydroxysteroid Dehydrogenase(3β-HSD) gene in a Chinese family with adrenocortical insufficiency.Methods:The diagnosis of adrenocortical insufficiency of the patients was included.The genome DNA from 5 ml peripheral vein blood of the proband and his 5 family members was extracted.Then exon 1,2,3 and 4 of 3β-Hydroxysteroid Dehydrogenase gene and their flanking sequences were amplified by polymerase chain reaction.(Some of the family members were studied by just amplifying exon 4.) Finally,the PCR products were purified and sequenced.Results:The C to T homozygous mutation at nucleotide 1088 site and the C to G homozygous mutation at nucleotide 1132 site within exon 4 of 3β-HSD, were found in the family members with abnormal phenotype patients.In the family members with normal phenotype,the above sites of heterozygous mutations were found in the parents and aunt 1,but in the aunt 2.Conclusions:1.A family of 3β-hydroxysteroid dehydrogenase deficiency was found in Chinese People.2.Two novel homozygous mutations of 36-HSD gene seem to be the disease-causing mutations in the studied family.