Literature DB >> 8486368

Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.

S J Charles1, J S Green, A T Moore, D E Barton, J R Yates.   

Abstract

Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Zmax = 21.96 at theta = 0.01, confidence interval (CI) 0.0005-0.05) and linkage to DXS85 (782; Zmax = 17.60 at theta = 0.07, CI = 0.03-0.13) and DXS237 (GMGX9; Zmax = 15.20 at theta = 0.08, CI = 0.03-0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS 143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10(10):1 over other locations for the disease locus.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8486368     DOI： 10.1006/geno.1993.1171

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  8 in total

1.  Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Authors:  A Meindl; D Hosenfeld; W Brückl; S Schuffenhauer; J Jenderny; A Bacskulin; H C Oppermann; O Swensson; P Bouloux; T Meitinger
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 2.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

3.  Carrier detection in X linked ocular albinism using linked DNA polymorphisms.

Authors:  S J Charles; A T Moore; Y Zhang; R McMahon; D E Barton; J R Yates
Journal:  Br J Ophthalmol       Date:  1994-07       Impact factor: 4.638

4.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

5.  Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.

Authors:  Yanli Fan; Jane S Green; Alison J Ross; Philip L Beales; Patrick S Parfrey; William S Davidson
Journal:  Hum Genet       Date:  2004-10-23       Impact factor: 4.132

6.  Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.

Authors:  Y Zhang; R McMahon; S J Charles; J S Green; A T Moore; D E Barton; J R Yates
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

7.  Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

Authors:  R E Schnur; P A Wick; C Bailey; T Rebbeck; R G Weleber; J Wagstaff; A W Grix; R A Pagon; A Hockey; M J Edwards
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

8.  Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

Authors:  Takuya Naruto; Nobuhiko Okamoto; Kiyoshi Masuda; Takao Endo; Yoshikazu Hatsukawa; Tomohiro Kohmoto; Issei Imoto
Journal:  Sci Rep       Date:  2015-06-10       Impact factor: 4.379
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.