Literature DB >> 8314567

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes.

J Kere1, K H Grzeschik, J Limon, M Gremaud, D Schlessinger, A de la Chapelle.   

Abstract

Anhidrotic ectodermal dysplasia (EDA), an X-chromosomal recessive disorder, is expressed in a few females with chromosomal translocations involving bands Xq12-q13. Using available DNA markers from the region and somatic cell hybrids we mapped the X-chromosomal breakpoints in two such translocations. The breakpoints were further mapped within a yeast artificial chromosome contig constructed by chromosome walking techniques. Genomic DNA markers that map between the two translocation breakpoints were recovered representing putative portions of the EDA gene.

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Year:  1993        PMID: 8314567     DOI: 10.1006/geno.1993.1189

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


  4 in total

1.  Androgen insensitivity with mental retardation: a contiguous gene syndrome?

Authors:  H R Davies; I A Hughes; M O Savage; C A Quigley; M Trifiro; L Pinsky; T R Brown; M N Patterson
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

2.  Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

Authors:  J Zonana; M Jones; A Clarke; J Gault; B Muller; N S Thomas
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

3.  Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes.

Authors:  P Nieminen; S Arte; S Pirinen; L Peltonen; I Thesleff
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

4.  Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.

Authors:  A K Srivastava; O Montonen; U Saarialho-Kere; E Chen; P Baybayan; J Pispa; J Limon; D Schlessinger; J Kere
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

  4 in total

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