| | |  | | | | Record from Web of Science® | | | | | | |
| A 2ND LOCUS FOR MARFAN-SYNDROME MAPS TO CHROMOSOME-3P24.2-P25 |
|
|
| Author(s): COLLOD G, BABRON MC, JONDEAU G, COULON M, WEISSENBACH J, DUBOURG O, BOURDARIAS JP, BONAITIPELLIE C, JUNIEN C, BOILEAU C |
| Source: NATURE GENETICS Volume: 8 Issue: 3 Pages: 264-268 Published: NOV 1994 |
| Times Cited: 94 References: 37 |
| Abstract: Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on clinical criteria requiring anomalies in at least two systems. By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2). Linkage analyses, performed in this family, have localized MFS2 to a region of 9 centiMorgans between D3S1293 and D3S1283, at 3p24.2-p25. In this region, the highest lod score was found with D3S2336, of 4.89 (theta=0.05). By LINKMAP analyses, the most probable position for the second locus in MFS was at D3S2335. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV PARIS 05, HOP NECKER ENFANTS MALAD, INSERM, U383, F-75743 PARIS 15, FRANCE
2. INSERM, U155, F-75016 PARIS, FRANCE
3. CHU AMBROISE PARE, SERV CARDIOL, F-92104 BOULOGNE, FRANCE
4. GENETHON, F-91002 EVRY, FRANCE
5. CHU AMBROSIE PARE, CENT BIOCHIM & GENET LAB, F-92104 BOULOGNE, FRANCE |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PP765 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |