Literature DB >> 1350680

The gene for an inherited form of deafness maps to chromosome 5q31.

P E Leon1, H Raventos, E Lynch, J Morrow, M C King.   

Abstract

Primary--i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresses by age 30 years to bilateral hearing loss of all frequencies. Intelligence, fertility, and life expectancy are normal. The family traces its ancestry to an affected founder born in Costa Rica in 1754. We have mapped the gene for deafness in this kindred to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives.

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1350680      PMCID： PMC49253          DOI： 10.1073/pnas.89.11.5181

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  13 in total

1.  Radiation hybrid map of 13 loci on the long arm of chromosome 5.

Authors:  J A Warrington; L V Hall; L M Hinton; J N Miller; J J Wasmuth; M Lovett
Journal:  Genomics       Date:  1991-11       Impact factor: 5.736

2.  The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Authors:  M J Dixon; A P Read; D Donnai; A Colley; J Dixon; R Williamson
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

3.  A novel approach to establishing permanent lymphoblastoid cell lines: Epstein-Barr virus transformation of cryopreserved lymphocytes.

Authors:  L G Louie; M C King
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

Review 4.  Report of the chromosome 5 workshop.

Authors:  C A Westbrook; W L Neuman; J Hewitt; K K Kidd; M M Le Beau; R Williamson
Journal:  Genomics       Date:  1991-08       Impact factor: 5.736

5.  Dinucleotide repeat polymorphism at the human interleukin 9 gene.

Authors:  M H Polymeropoulos; H Xiao; D S Rath; C R Merril
Journal:  Nucleic Acids Res       Date:  1991-02-11       Impact factor: 16.971

6.  Mapping of human chromosome 5 microsatellite DNA polymorphisms.

Authors:  J L Weber; M H Polymeropoulos; P E May; A E Kwitek; H Xiao; J D McPherson; J J Wasmuth
Journal:  Genomics       Date:  1991-11       Impact factor: 5.736

7.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

8.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

9.  Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

Authors:  B Lee; M Godfrey; E Vitale; H Hori; M G Mattei; M Sarfarazi; P Tsipouras; F Ramirez; D W Hollister
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

10.  Low frequency hereditary deafness in man with childhood onset.

Authors:  P E León; J A Bonilla; J R Sánchez; R Vanegas; M Villalobos; L Torres; F León; A L Howell; J A Rodríguez
Journal:  Am J Hum Genet       Date:  1981-03       Impact factor: 11.025
View more
  20 in total

1.  A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Authors:  K Fukushima; N Kasai; Y Ueki; K Nishizaki; K Sugata; S Hirakawa; A Masuda; M Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; G Van Camp; R J Smith
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Authors:  I N Bespalova; G Van Camp; S J Bom; D J Brown; K Cryns; A T DeWan; A E Erson; K Flothmann; H P Kunst; P Kurnool; T A Sivakumaran; C W Cremers; S M Leal; M Burmeister; M M Lesperance
Journal:  Hum Mol Genet       Date:  2001-10-15       Impact factor: 6.150

3.  Generation and screening of an oligonucleotide-encoded synthetic peptide library.

Authors:  M C Needels; D G Jones; E H Tate; G L Heinkel; L M Kochersperger; W J Dower; R W Barrett; M A Gallop
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

Review 4.  Nonsyndromic hearing impairment: unparalleled heterogeneity.

Authors:  G Van Camp; P J Willems; R J Smith
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

Review 5.  Whole-exome sequencing and its impact in hereditary hearing loss.

Authors:  Tahir Atik; Guney Bademci; Oscar Diaz-Horta; Susan H Blanton; Mustafa Tekin
Journal:  Genet Res (Camb)       Date:  2015-03-31       Impact factor: 1.588

6.  The U.S./Costa Rica Neuropsychiatric Genetics Research Training Program Providing advanced training opportunities to Costa Rican neuropsychiatric researchers.

Authors:  Michael Escamilla; Daniel Large
Journal:  Neuroeje       Date:  2012-07

7.  Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.

Authors:  D A Scott; R Carmi; K Elbedour; G M Duyk; E M Stone; V C Sheffield
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  1992 American Society of Human Genetics presidential address: back to the future.

Authors:  W E Nance
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 9.  Tagged versus untagged libraries: methods for the generation and screening of combinatorial chemical libraries.

Authors:  K D Janda
Journal:  Proc Natl Acad Sci U S A       Date:  1994-11-08       Impact factor: 11.205

Review 10.  Hearing loss: a common disorder caused by many rare alleles.

Authors:  Dorith Raviv; Amiel A Dror; Karen B Avraham
Journal:  Ann N Y Acad Sci       Date:  2010-12       Impact factor: 5.691
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.