Myosin-7A Mutation Screening in Patients with Prelingual Non-Syndromic Hearing Impairment
HU Peng
XIE Ding-hua
XIAO Zi-an
ZHU Gang-hua
WU Weijing
CHEN Yong
XIA Kun
摘要：Objective To screen for mutations in myosin-7A gene (MYO7A) in patients with prelingual nonsyndromic hearing impairment. Methods 31 sporadic patients with congenital hearing impairment and 65 patients from 34 families with prelingual hereditary hearing impairment in China were tested in this study, and 100 hearing normal individuals were used as control. Genomic DNA isolated from whole blood of all subjects was subjected to polymerase chain reaction (PCR) to amplify selected exons of MYO7A gene. The PCR products were subsequently screened using single strand conformational polymorphism analysis (SSCP) and direct sequencing when the fragments showed an abnormal electrophoretic pattern. Results GgA transition at position 617 in exon 7,which would produce an A206G amino acid substitution, was detected in two patients but in none of the unaffected members in the families. This heterozygous missense mutation happened within a highly conserved heptapeptide sequence of MYO7A protein, and is closely relevant to preligual nonsyndromic deafness. Conclusions The A206G substitution is possibly a new mutation to cause preligual nonsyndromic hearing impairment. Our results provide evidence that exon 7 of MYO7A is a mutational hotspot in genetic hearing impairment.
机标关键词：
分类号：R76(耳鼻咽喉科学)
资助基金：国家自然科学基金(30070807)
论文发表日期：2006-01-01
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）
页数：4( 103-106 )
英文信息