Methods for detecting mutations associated with hypertrophic car

Details Methods for detecting mutations associated with hypertrophic car Methods for detecting mutations associated with hypertrophic car

1995-06-07

1998-11-24

Zitomer, Stephanie W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

435 5, 435 6, 435 71, 435 912, 536 221, 536 231, 536 243, 536 2433, 436518, 530350, 5303871, 5303881, C12Q 168, C12Q 100, C12P 1934, C07H 2102

Patent

active

058404775

ABSTRACT:
The invention pertains to methods for detecting the presence or absence of a mutation associated with hypertrophic cardiomyopathy (HC). The methods include providing DNA which encodes a sarcomeric thin filament protein (e.g., .alpha.-tropomyosin or cardiac troponin T) and detecting the presence or absence of a mutation in the amplified product which is associated with HC. DNA encoding an actin-associated protein, a myosin-associated protein, or a sarcomeric protein other than .beta. cardiac heavy chain can also be used in the methods of the present invention. The invention further pertains to methods for diagnosing familial HC (FHC) in a subject. These methods typically include obtaining a sample of DNA which encodes a sarcomeric thin filament protein from a subject being tested for FHC and diagnosing the subject for FHC by detecting the presence or absence of a mutation in the sarcomeric thin filament protein which causes FHC as an indication of the disease. An alternative method for diagnosing HC includes obtaining a sample of at least two sarcomeric proteins from a subject being tested for HC and diagnosing the subject for HC by detecting an abnormality in the sarcomeric proteins as an indication of the disease. Other aspects of the invention include kits useful for diagnosing HC and methods for treating HC.

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