Literature DB >> 1642237

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.

M Sarfarazi1, C Wijmenga, M Upadhyaya, B Weiffenbach, C Hyser, K Mathews, J Murray, J Gilbert, M Pericak-Vance, P Lunt.   

Abstract

Members of an international consortium for linkage analysis of the facioscapulohumeral muscular dystrophy (FSHD) gene have pooled data for joint analyses, in an attempt to determine the precise location of the FSHD gene and the order of four DNA markers on 4q35 region. Six laboratories determined a total of 3,078 genotypes in 65 families, consisting of a total of 504 affected subjects and 559 unaffected subjects. For each marker, a mean of 648 meioses were informative. D4S139 and D4S163 were identified as the closest linked markers to the FSHD locus, with 99% upper confidence intervals of recombination fractions of .08 and .10, respectively. We have used the CRI-MAP program to construct the most likely order of cen-D4S171-F11-D4S163-D4S139-FSHD-tel, with favorable odds of 10(8)-10(114) over all other orders except that in which F11 and D4S171 are reversed, for which the odds ratio was 191:1. With this order, the genetic map of this region extends 25.5 cM in males and 13.8 cM in females (averaging 19.5 cM for sexes combined); the sex difference was statistically significant (P = .0013). Comparison between families for the two-point and multipoint lod scores involving FSHD showed no evidence for heterogeneity of this disorder. However, after the completion of this analysis, one large family which might show heterogeneity was identified. In view of this and the fact that all of the linked markers reside on the same side of the FSHD locus, the clinical application of these markers is not recommended at this time.

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Year:  1992        PMID： 1642237      PMCID： PMC1682696     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  33 in total

1.  FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

Authors:  T Rijkers; G Deidda; S van Koningsbruggen; M van Geel; R J L F Lemmers; J C T van Deutekom; D Figlewicz; J E Hewitt; G W Padberg; R R Frants; S M van der Maarel
Journal:  J Med Genet       Date:  2004-11       Impact factor: 6.318

2.  Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).

Authors:  K A Mills; K H Buetow; Y Xu; T M Ritty; K D Mathews; S E Bodrug; C Wijmenga; I Balazs; J C Murray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).

Authors:  M Upadhyaya; P Lunt; M Sarfarazi; W Broadhead; J Farnham; P S Harper
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

4.  Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.

Authors:  K D Mathews; K A Mills; E P Bosch; V V Ionasescu; K R Wiles; K H Buetow; J C Murray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

5.  Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Authors:  Rinse Klooster; Kirsten Straasheijm; Bharati Shah; Janet Sowden; Rune Frants; Charles Thornton; Rabi Tawil; Silvère van der Maarel
Journal:  Eur J Hum Genet       Date:  2009-10-07       Impact factor: 4.246

6.  New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Authors:  Mouna Barat-Houari; Karine Nguyen; Rafaëlle Bernard; Céline Fernandez; Catherine Vovan; Corinne Bareil; Philippe Khau Van Kien; Delphine Thorel; Sylvie Tuffery-Giraud; Francis Vasseur; Shahram Attarian; Jean Pouget; Anne Girardet; Nicolas Lévy; Mireille Claustres
Journal:  Eur J Hum Genet       Date:  2009-11-25       Impact factor: 4.246

7.  Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors:  R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

8.  Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.

Authors:  E Bakker; M J Van der Wielen; E Voorhoeve; P F Ippel; G W Padberg; R R Frants; C Wijmenga
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

9.  A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S T Winokur; B Schutte; B Weiffenbach; S S Washington; D McElligott; A Chakravarti; J H Wasmuth; M R Altherr
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

10.  Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

Authors:  J R Gilbert; J M Stajich; S Wall; S C Carter; H Qiu; J M Vance; C S Stewart; M C Speer; J Pufky; L H Yamaoka
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025
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