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| EXCLUSION OF CARDIAC MYOSIN HEAVY-CHAIN AND ACTIN GENE INVOLVEMENT IN HYPERTROPHIC CARDIOMYOPATHY OF SEVERAL FRENCH FAMILIES |
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| Author(s): SCHWARTZ K, BECKMANN J, DUFOUR C, FAURE L, FOUGEROUSSE F, CARRIER L, HENGSTENBERG C, COHEN D, VOSBERG HP, SACREZ A, FERRIERE M, DESNOS M, CAMBIEN F, DUBOURG O, KOMAJDA M |
| Source: CIRCULATION RESEARCH Volume: 71 Issue: 1 Pages: 3-8 Published: JUL 1992 |
| Times Cited: 60 References: 21 |
| Abstract: Familial hypertrophic cardiomyopathy (FHC) is characterized by idiopathic myocardial hypertrophy, which often and predominantly involves the interventricular septum. The disease is transmitted as an autosomal dominant trait, and its major risk is sudden death. It was recently demonstrated that this disease is genetically heterogeneous and that in 13 of 18 unrelated families the morbid locus, termed FHC-1, maps to chromosome 14q11-12 in and/or very near the cardiac beta-myosin heavy chain gene. We have performed linkage analysis with five chromosomal markers detecting polymorphisms in either the cardiac beta-myosin heavy chain gene or the cardiac actin gene (located on chromosome 15q) on eight families from different regions of France. We show that 1) it is possible to analyze medium-sized families by using highly informative microsatellite markers located in these genes and 2) the disease is not linked to the two contractile protein genes in any of these families. Moreover, 10-20% of chromosome 14 and 20-40% of chromosome 15 in the vicinity of the respective markers were excluded as possible locations for the morbid locus. These results provide new insights into the identification of the genes responsible for FHC. |
| Document Type: Note |
| Language: English |
| Reprint Address: SCHWARTZ, K (reprint author), HOP LARIBOISIERE, INSERM, U127, HL BLVD CHAPELLE, F-75475 PARIS 10, FRANCE |
Addresses:
1. CTR ETUD POLYMORPHISME HUMAN, PARIS, FRANCE
2. GENETHON, EVRY, FRANCE
3. MAX PLANCK INST MED RES, DEPT CELL PHYSIOL, W-6900 HEIDELBERG 1, GERMANY
4. HOP HAUTE PIERRE, SERV CARDIOL, F-67098 STRASBOURG, FRANCE
5. CLIN ST ELOI, SERV CARDIOL, MONTPELLIER, FRANCE
6. HOP BOUCICAULT, SERV CARDIOL, F-75730 PARIS 15, FRANCE
7. INSERM, SERV COMMUN 7, F-75005 PARIS, FRANCE
8. HOP AMBROISE PARE, SERV CARDIOL, F-92100 BOULOGNE, FRANCE
9. HOP LA PITIE SALPETRIERE, SERV CARDIOL, PARIS, FRANCE |
| Publisher: AMER HEART ASSOC, 7272 GREENVILLE AVENUE, DALLAS, TX 75231-4596 |
| Subject Category: Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular Disease |
| IDS Number: HZ760 |
| ISSN: 0009-7330 |
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