| 2 | The genetic load for hereditary hearing impairment in Chinese population and its clinical implication显示文摘Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and audiometric data were collected through a national genetic resources collecting network. Two conventional genetic approaches were used in the studies. Linkage analysis in X chromosome and autosomes with microsatellite markers were performed in large families for gene mapping and positional cloning of novel genes. Candidate gene approach was used for screening the mtDNA 12SrRNA, GJB2 and SLC26A4 mutations in population -based samples. Results A total of 2,572 Chinese hearing loss families or sporadic cases were characterized in the reported studies, including seven X-linked, one Y-linked, 28 large and multiplex autosomal dominant hearing loss families, 607 simplex autosomal recessive hereditary hearing loss families, 100 mitochondrial inheritance families, 147 GJB2 induced hearing loss cases, 230 cases with enlarged vestibular aqueduct (EVA) syndrome, 169 sporadic cases with auditory neuropathy, and 1,283 sporadic sensorineural hearing loss cases. Through linkage analysis or sequence analysis, two X-linked families were found transmitting two novel mutations in the POU3F4 gene, while another X -linked family was mapped onto a novel locus, nominated as AUNX1 (auditory neuropathy, X-linked locus 1). The only Y-linked family was mapped onto the DFNY1 locus(Y-linked locus 1, DFNY1). Eight of the 28 autosomal dominant families were linked to various autosomal loci. In population genetics studies, 2,567 familial cases and sporadic patients were subjected to mutation screening for three common hearing loss genes: mtDNA 12S rRNA 1555G, GJB2 and SLC26A4. The auditory neuropathy cases in our samples were screened for OTOF gene mutations. Conclusions These data show that the Chinese population has a genetic load on hereditary hearing loss. Establishing personalized surveillance and prevention models for hearing loss based on genetic research will provide the opportunity to decrease the prevalence of deafness in the Chinese population. | WANG Qiu-ju 1,2, RAO Shao-qi 1, 3, GUO Yu-fen 4, LI Qing-zhong 5, ZHAO Hui 1, ZHAO Li-dong 1, YUAN Hu 1, ZONG Liang 1, LIU Qiong 1, ZHAO Ya-li 6, WANG Da-yong 1, HAN Ming-kun 1, JI Yu-bin 1, LI Jian-qiang 1, LAN Lan 1, YANG Wei-yan 1, SHEN Yan 2,6, HAN Dong-yi 1 1 Department of Otorhinolaryngology-Head and Neck Surgery, and Institute of Otolaryngology, Chinese People’s Liberation Army General Hospital, Beijing, 100853 China 2 Chinese National Human Genome Center, Beijing, 100176 China 3 Department of Medical Statistics and Epidemiology, School of Public Health, Sun Yat-Sen University, Guangzhou, 510080, China 4 Department of Otorhinolaryngology, Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou 730030, China 5 Department of Otolaryngology, EYE & ENT hospital of Fudan University, Shanghai, 200031,China 6 Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005 China | 2009 | Journal of Otology2009，4，2： | 1 |
| 3 | Screening of GJB2 mutations in Chinese population显示文摘The GJB2 gene(connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness(Group 1), 124 with postlingual deafness(Group 2), and 117 normal hearing subjects(Group 3). We found that, in Group 1, 65 patients(13.32%) were homozygotes or compound heterozygotes and 51 patients (10.45%) carried a single pathogenic mutation. The 235delC mutation was the most frequent mutation, accounting for 73.22% of the known pathogenic alleles in Group 1. No homozygotes or compound heterozygotes were detected in Group 2 or Group 3. Some postlingual deaf patients (2.42%) and normal hearing subjects(4.27%) were 235delC carriers. Our preliminary data indicate that 235delC, the most frequent mutation identified in this study, is a major cause for prelingual deafness. | HAN Ming-kun1, HAN Dong-yi1, GUO Yu-fen2, LI Qing-zhong3, ZHAO Ya-li1, 4, RAO Shao-qi1, 5, 6, YUAN Hu1, ZONG Liang1, GUAN Jing2, XU Bai-cheng2, WANG Da-yong1, LAN lan1, WANG Qiu-ju1, 7 1 Department of Otorhinolaryngology/ Head and Neck Surgery, and Institute of Otolaryngology, China People Liberation Army General Hospital, Beijing, China 2 Department of Otorhinolaryngology/ Head and Neck Surgery, the Second Affiliated Hospital of LanZhou University, Lanzhou, China 3 Deparment of Otlolaryngology, Eye and ENT Hospital of Fudan University, Shanghai, China 4 Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China 5 Departments of Cardiovascular Medicine and Molecular Cardiology, the Cleveland Clinic Foundation, Cleveland, Ohio, USA 6 Department of Bioinformatics, Harbin Medical University, Harbin, China 7 China National Human Genome Center, Beijing, China | 2007 | Journal of Otology2007，2，1： | 0 |
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