Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22–21.3

被引:0
|
作者
Muhammad Salman Chishti
Kwanghyuk Lee
Merry-Lynn McDonald
Muhammad Jawad Hassan
Muhammad Ansar
Wasim Ahmad
Suzanne M Leal
机构
[1] Quaid-I-Azam University,Department of Biochemistry
[2] Baylor College of Medicine,Department of Molecular and Human Genetics
来源
Journal of Human Genetics | 2009年 / 54卷
关键词
8p22–21.3; autosomal recessive non-syndromic hearing impairment; DFNB71; Pakistan;
D O I
暂无
中图分类号
学科分类号
摘要
A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22–21.3. To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI. A maximum multipoint LOD score of 4.2 occurred at marker D8S261. The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786. This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.
引用
收藏
页码:141 / 144
页数:3
相关论文
共 50 条
  • [21] A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus
    Bönsch, D
    Scheer, P
    Neumann, C
    Lang-Roth, R
    Seifert, E
    Storch, P
    Weiller, C
    Lamprecht-Dinnesen, A
    Deufel, T
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (03) : 165 - 170
  • [22] Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families
    Lee, K.
    Chiu, I.
    Santos-Cortez, R. L. P.
    Basit, S.
    Khan, S.
    Azeem, Z.
    Andrade, P. B.
    Kim, S. S.
    Ahmad, W.
    Leal, S. M.
    CLINICAL GENETICS, 2013, 84 (03) : 294 - 296
  • [23] Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference
    Oonk, A. M. M.
    Huygen, P. L. M.
    Kunst, H. P. M.
    Kremer, H.
    Pennings, R. J. E.
    CLINICAL OTOLARYNGOLOGY, 2016, 41 (05) : 487 - 497
  • [24] Investigation of LRTOMT Gene (Locus DFNB63) Mutations in Iranian Patients with Autosomal Recessive Non-Syndromic Hearing Loss
    Taghizadeh, Seyyed Hossein
    Kazeminezhad, Seyyed Reza
    Sefidgar, Seyyed Ali Asghar
    Yazdanpanahi, Nasrin
    Tabatabaeifar, Mohammad Amin
    Yousefi, Ahmad
    Lesani, Seyyed Mohammad
    Abolhasani, Marziyeh
    Chaleshtori, Morteza Hashemzadeh
    INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, 2013, 2 (01) : 41 - 45
  • [25] A novel locus for non-syndromic autosomal dominant hearing loss mapped to chromosome 16p13.3.
    Li, XC
    Kim, SA
    Saal, HM
    Friedman, RA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 441 - 441
  • [26] A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15
    Boensch, D.
    Schmidt, C. M.
    Scheer, P.
    Bohlender, J.
    Neumann, C.
    Zehnhoff-Dinnesen, A. am
    Deufel, T.
    HNO, 2008, 56 (02) : 177 - 182
  • [27] A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3
    Aslam, M
    Wajid, M
    Chahrour, MH
    Ansar, M
    Haque, S
    Pham, TL
    Santos, RP
    Yan, K
    Ahmad, W
    Leal, SM
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (01) : 18 - 22
  • [28] A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4
    Kalay, E.
    Caylan, R.
    Kiroglu, A. F.
    Yasar, T.
    Collin, R. W. J.
    Heister, J. G. A. M.
    Oostrik, J.
    Cremers, C. W. R. J.
    Brunner, H. G.
    Karaguzel, A.
    Kremer, H.
    JOURNAL OF MOLECULAR MEDICINE-JMM, 2007, 85 (04): : 397 - 404
  • [29] Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan
    Ansar, M
    Ramzan, M
    Pham, TL
    Yan, K
    Jamal, SM
    Haque, S
    Ahmad, W
    Leal, SM
    HUMAN HEREDITY, 2003, 55 (01) : 71 - 74
  • [30] Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
    Lee, K.
    Khan, S.
    Islam, A.
    Ansar, M.
    Andrade, P. B.
    Kim, S.
    Santos-Cortez, R. L. P.
    Ahmad, W.
    Leal, S. M.
    CLINICAL GENETICS, 2012, 82 (01) : 56 - 63