Literature DB >> 8093738

Exclusion of familial dysautonomia from more than 60% of the genome.

A Blumenfeld1, F B Axelrod, J A Trofatter, C Maayan, D E Lucente, S A Slaugenhaupt, C B Liebert, L J Ozelius, J L Haines, X O Breakefield.   

Abstract

Familial dysautonomia (FD) is a recessive neurological disorder that affects the development of the sensory and autonomic nervous system. The gene defect appears to be limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. One hundred and ninety-one marker loci representing all autosomes were tested for linkage with the FD genetic defect in 23 families. A combination of pairwise and multipoint analyses excluded the FD gene from at least 60% of the autosomal genome. The program EXCLUDE predicted regions of chromosomes 2, 4, 5q, 9, or 10 as the most promising locations for future analyses.

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Year:  1993        PMID: 8093738      PMCID: PMC1016234          DOI: 10.1136/jmg.30.1.47

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


  22 in total

1.  Mapping of human chromosome 5 microsatellite DNA polymorphisms.

Authors:  J L Weber; M H Polymeropoulos; P E May; A E Kwitek; H Xiao; J D McPherson; J J Wasmuth
Journal:  Genomics       Date:  1991-11       Impact factor: 5.736

2.  A genetic linkage map of the long arm of human chromosome 22.

Authors:  G A Rouleau; J L Haines; A Bazanowski; A Colella-Crowley; J A Trofatter; N S Wexler; P M Conneally; J F Gusella
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

3.  LIPIN: an interactive data entry and management program for LIPED.

Authors:  J A Trofatter; J L Haines; P M Conneally
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025

4.  Exclusion mapping.

Authors:  J H Edwards
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

5.  Incidence of familial dysautonomia in Israel 1977-1981.

Authors:  C Maayan; E Kaplan; S Shachar; O Peleg; S Godfrey
Journal:  Clin Genet       Date:  1987-08       Impact factor: 4.438

6.  Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature.

Authors:  P W Brunt; V A McKusick
Journal:  Medicine (Baltimore)       Date:  1970-09       Impact factor: 1.889

7.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

8.  DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia.

Authors:  X O Breakefield; L Ozelius; M A Bothwell; M V Chao; F Axelrod; P L Kramer; K K Kidd; A A Lanahan; D E Johnson; A H Ross
Journal:  Mol Biol Med       Date:  1986-12

9.  Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

Authors:  X O Breakefield; G Orloff; C Castiglione; L Coussens; F B Axelrod; A Ullrich
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

10.  Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia.

Authors:  F B Axelrod; J Pearson
Journal:  Am J Dis Child       Date:  1984-10
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  3 in total

Review 1.  Familial dysautonomia (Riley-Day syndrome).

Authors:  A Shetty; P Parikh; R P Khubchandani
Journal:  Indian J Pediatr       Date:  1995 May-Jun       Impact factor: 1.967

2.  Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Authors:  A Blumenfeld; S A Slaugenhaupt; C B Liebert; V Temper; C Maayan; S Gill; D E Lucente; M Idelson; K MacCormack; M A Monahan; J Mull; M Leyne; M Mendillo; T Schiripo; E Mishori; X Breakefield; F B Axelrod; J F Gusella
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Decreased incorporation of D-glucosamine into glycosphingolipids of intact Familial Dysautonomia lymphoblasts.

Authors:  P M Strasberg; A Novak; I B Warren
Journal:  J Mol Neurosci       Date:  1995       Impact factor: 3.444

  3 in total

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