A mutation in the type Ⅱ hair keratin KRT86 gene in a Han family with monilethrix
Jin Wu
Yongli Lin
Wenrong Xu
Zhongming Li
Weixin Fan
摘要：Monilethrix,a congenital disease of hair,is usually associated with mutations in keratin genes,like KRT81,KRT83 and KRT86.We conducted this study to investigate the mutation of type Ⅱ human basic hair keratin hHb/KRT gene in a Han family with monilethrix and obtain information for potential pathogenic mechanism study of monilethrix.Peripheral blood samples were drawn for genomic DNA detection.Exon 1 and exon 7 of the KRT81,KRT83 and KRT86 genes were amplified by PCR.All PCR products were sequenced directly using an ABI 310DNA sequencer.These sequences were aligned with the standard sequences in GenBank using the BLAST software.PCR products were digested with restriction endonuclease and restriction fragment length polymorphism(RFLP)analysis was performed.In this study,we identified one novel mutation,which is a heterozygous transitional mutation of G→A at position 1,289 in exon 7 of the KRT86 gene[R430Q(KRT86)].RFLP assays for the novel mutation excluded the possibility of polymorphism.The R430Q mutation of the KRT86 gene may be pathogenic for monilethrix.Meanwhile,we did not find any novel mutation or recurrent mutation in exons 1 and7 of KRT81 and KRT83 and exon 1 of KRT86.There is a potential pathogenic gene in the subjects and our results expand the spectrum of mutations in the hHb6 gene.
机标关键词：typefamilynovel mutationrestriction endonucleaseproductsmechanism studyinformationgenomic DNA
分类号：R3(基础医学)
资助基金：This study was supported by the National Natural Science Foundation of China(30771947)Provincal Natural Science Foundation of Jiangsu(BK2007248)
论文发表日期：2011-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
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