Literature DB >> 8162077

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.

K Evans1, A Fryer, C Inglehearn, J Duvall-Young, J L Whittaker, C Y Gregory, R Butler, N Ebenezer, D M Hunt, S Bhattacharya.   

Abstract

Inherited retinal dystrophies are the most common cause of childhood blindness in the developed world. Cone-rod retinal dystrophies are severe examples of this group of disorders. Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. Two-point linkage analysis showed significant linkage with three markers mapping to chromosome 19q. Multipoint analysis gave a maximum lod score of 10.08 (theta = 0.05) distal to D19S47. Cone-rod dystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate locus for other retinal dystrophies is identified.

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Year:  1994        PMID： 8162077     DOI： 10.1038/ng0294-210

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  31 in total

1.  Heritability of the maternal meiotic drive system linked to Om and high-resolution mapping of the Responder locus in mouse.

Authors:  F Pardo-Manuel De Villena; E de La Casa-Esperón; J W Williams; J M Malette; M Rosa; C Sapienza
Journal:  Genetics       Date:  2000-05       Impact factor: 4.562

2.  A genetic test to determine the origin of maternal transmission ratio distortion. Meiotic drive at the mouse Om locus.

Authors:  F Pardo-Manuel de Villena; E de la Casa-Esperon; T L Briscoe; C Sapienza
Journal:  Genetics       Date:  2000-01       Impact factor: 4.562

3.  Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

Authors:  R S Ozen; B E Baysal; B Devlin; J E Farr; M Gorry; G D Ehrlich; C W Richard
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

4.  Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.

Authors:  A Girardet; M S McPeek; E P Leeflang; F Munier; N Arnheim; M Claustres; F Pellestor
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

5.  Molecular cloning and mapping of a novel developmentally regulated human C2H2-type zinc finger.

Authors:  K G Becker; R D Canning; J W Nagle; A M Dehejia; M H Polymeropoulos; I J Lee; A M Gado; W E Biddison; P D Drew
Journal:  Mamm Genome       Date:  1997-04       Impact factor: 2.957

6.  Segregation distortion in myotonic dystrophy.

Authors:  A C Magee; A E Hughes
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

7.  A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Authors:  M Papaioannou; D Bessant; A Payne; J Bellingham; C Rougas; A Loutradis-Anagnostou; C Gregory-Evans; A Balassopoulou; S Bhattacharya
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

8.  Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3.

Authors:  J Bellingham; C Y Gregory-Evans; K Gregory-Evans
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

9.  Evidence for extensive transmission distortion in the human genome.

Authors:  Sebastian Zöllner; Xiaoquan Wen; Neil A Hanchard; Mark A Herbert; Carole Ober; Jonathan K Pritchard
Journal:  Am J Hum Genet       Date:  2003-12-15       Impact factor: 11.025

10.  Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.

Authors:  T Ikeuchi; S Igarashi; Y Takiyama; O Onodera; M Oyake; H Takano; R Koide; H Tanaka; S Tsuji
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025
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