Literature DB >> 8661022

YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter.

I Zucchi1, S Mumm, G Pilia, S Macmillan, R Reinbold, L Susani, J Weissenbach, D Schlessinger.   

Abstract

A 12-Mb YAC contig has been assembled spanning the Xq27 cytogenetic band with 203 YACs, 121 STSs, and >300 hybridization probes to a resolution of 25 kb. At its centromeric end, the contig is merged with a 9-Mb contig covering Xq26.1-q26.3 at a point 1 Mb telomeric to the factor IX gene; at its telomeric end, it is merged to 7.5 Mb of contigs from the IDS gene to the Xq28 telomere. Thus, the distal 29 Mb of the Xq arm is available cloned in long-range contiguity. The physical map has been integrated with current genetic data by the localization of 18 markers that detect polymorphism. Apparent recombination levels reach >4.5 cM/Mb near the centromeric border of Xq27. The ratio of cM/Mb correspondingly delimits the location of several disease genes-including, for example, X-linked hypoparathyroidism in 3 Mb (6 cM) telomeric to Factor IX.

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Year:  1996        PMID: 8661022     DOI: 10.1006/geno.1996.0239

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


  3 in total

1.  Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

Authors:  D Trump; P H Dixon; S Mumm; C Wooding; K E Davies; D Schlessinger; M P Whyte; R V Thakker
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

2.  mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

Authors:  S Mumm; M P Whyte; R V Thakker; K H Buetow; D Schlessinger
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

3.  A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication.

Authors:  R S Hansen; T K Canfield; A D Fjeld; S Mumm; C D Laird; S M Gartler
Journal:  Proc Natl Acad Sci U S A       Date:  1997-04-29       Impact factor: 11.205

  3 in total

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