Literature DB >> 8301646

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

Y Zhang1, R McMahon, S J Charles, J S Green, A T Moore, D E Barton, J R Yates.   

Abstract

The X linked form of Kallmann syndrome (KAL) and X linked ocular albinism (OA1) have both been mapped to Xp22.3. We have used a dinucleotide repeat polymorphism at the Kallmann locus to type 17 X linked ocular albinism families which had previously been typed for the Xg blood group (XG) and the DNA markers DXS237 (GMGX9), DXS143 (dic56), and DXS85 (782). Close linkage was found between KAL and OA1 with a maximum lod score (Zmax) of 30.14 at a recombination fraction (theta max) of 0.06 (confidence interval for theta: 0.03-0.10). KAL was also closely linked to DXS237 (Zmax = 15.32; theta max = 0.05; CI 0.02-0.12) and DXS143 (Zmax = 14.57; theta max = 0.05; CI 0.02-0.13). There was looser linkage to the Xg blood group (XG) and to DXS85 (782). Multipoint linkage analysis gave the map: Xpter-XG-0.13-DXS237-0.025-KAL-0.025-DXS143-0.01 5-OA1-0.09-DXS85-Xcen. Placement of OA1 proximal to DXS143 was supported by odds of 2300:1 compared to other orders. This confirms our previous localisation of OA1 and improves the genetic mapping of both disease loci.

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Year:  1993        PMID： 8301646      PMCID： PMC1016600          DOI： 10.1136/jmg.30.11.923

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  18 in total

1.  A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

Authors:  B Franco; S Guioli; A Pragliola; B Incerti; B Bardoni; R Tonlorenzi; R Carrozzo; E Maestrini; M Pieretti; P Taillon-Miller; C J Brown; H F Willard; C Lawrence; M Graziella Persico; G Camerino; A Ballabio
Journal:  Nature       Date:  1991-10-10       Impact factor: 49.962

2.  Long-range restriction map of the terminal part of the short arm of the human X chromosome.

Authors:  C Petit; J Levilliers; J Weissenbach
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

3.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

4.  Linkage analysis in X-linked ocular albinism.

Authors:  R E Schnur; R L Nussbaum; L Anson-Cartwright; C McDowell; R G Worton; M A Musarella
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

5.  Clinical features of affected males with X linked ocular albinism.

Authors:  S J Charles; J S Green; J W Grant; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1993-04       Impact factor: 4.638

6.  Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Authors:  A Ballabio; B Bardoni; R Carrozzo; G Andria; D Bick; L Campbell; B Hamel; M A Ferguson-Smith; G Gimelli; M Fraccaro
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

7.  Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers.

Authors:  J R Yates; D R Goudie; E F Gillard; D A Aitken; N A Affara; J F Clayton; P A Tippett; M A Ferguson-Smith
Journal:  Genomics       Date:  1987-09       Impact factor: 5.736

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

Authors:  R Legouis; J P Hardelin; J Levilliers; J M Claverie; S Compain; V Wunderle; P Millasseau; D Le Paslier; D Cohen; D Caterina
Journal:  Cell       Date:  1991-10-18       Impact factor: 41.582

10.  Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Authors:  T Meitinger; B Heye; C Petit; J Levilliers; A Golla; C Moraine; B Dalla Piccola; W G Sippell; J Murken; A Ballabio
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025
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  5 in total

Review 1.  Neural crest and olfactory system: new prospective.

Authors:  Paolo E Forni; Susan Wray
Journal:  Mol Neurobiol       Date:  2012-07-08       Impact factor: 5.590

2.  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

3.  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

4.  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

5.  Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Authors:  Sajjad Karim; Samah Saharti; Nofe Alganmi; Zeenat Mirza; Ahmed Alfares; Shereen Turkistany; Manal Al-Attas; Hend Noureldin; Khadega Al Sakkaf; Heba Abusamra; Mohammed Al-Qahtani; Adel Abuzenadah
Journal:  Life (Basel)       Date:  2021-12-23
  5 in total

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