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| EXCLUSION OF FAMILIAL DYSAUTONOMIA FROM MORE THAN 60-PERCENT OF THE GENOME |
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| Author(s): BLUMENFELD A, AXELROD FB, TROFATTER JA, MAAYAN C, LUCENTE DE, SLAUGENHAUPT SA, LIEBERT CB, OZELIUS LJ, HAINES JL, BREAKEFIELD XO, GUSELLA JF |
| Source: JOURNAL OF MEDICAL GENETICS Volume: 30 Issue: 1 Pages: 47-52 Published: JAN 1993 |
| Times Cited: 5 References: 27 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. MASSACHUSETTS GEN HOSP, MOLEC NEUROGENET LAB, BOSTON, MA 02129 USA
2. HARVARD UNIV, SCH MED, DEPT GENET, BOSTON, MA 02115 USA
3. HARVARD UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02115 USA
4. HARVARD UNIV, SCH MED, PROGRAM NEUROSCI, BOSTON, MA 02115 USA
5. NYU, SCH MED, DEPT PEDIAT, NEW YORK, NY 10016 USA
6. HADASSAH UNIV HOSP, DEPT PEDIAT, JERUSALEM, ISRAEL |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Genetics & Heredity |
| IDS Number: KK182 |
| ISSN: 0022-2593 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |