Method for detecting disease-associated mutations

a technology for detecting disease-associated mutations and detecting methods, which is applied in the field of detecting disease-associated mutations, can solve the problems of laborious identification of disease-causing mutations, and achieve the effect of prolonging the life of patients and improving the chance of being diagnosed

Inactive Publication Date: 2007-05-17
SEIDMAN CHRISTINE +3
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

[0006] The present invention provides a method for diagnosing individuals as having hypertrophic cardiomyopathy (hereinafter HC), e.g. familial or sporadic hypertrophic cardiomyopathy (hereinafter FHC or SHC). The method provides a useful diagnostic tool which becomes particularly important when screening asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of FHC may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for FHC may be counseled to take steps which hopefully would prolong their life, i.e. avoid rigorous exercise.

Problems solved by technology

The large size of the gene makes identifying disease-causing mutations laborious.

Method used

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  • Method for detecting disease-associated mutations
  • Method for detecting disease-associated mutations
  • Method for detecting disease-associated mutations

Examples

Experimental program
Comparison scheme
Effect test

example 1

The Detection of a Missense Mutation in the β Cardiac Myosin Heavy-Chain Gene in Members from Family A and Family OO

General Methodology

Cell Lines and DNA and RNA Extraction

[0046] Blood was drawn from members of Family A and normal control subjects. The blood samples were used to prepare DNA from red-cell pellets (Gross-Bellard et al., Eur. J. Biochem. 36:32-8 (1973)) and to establish lymphoblastoid cell lines (Holcombe et al., Genomics 1:287-91 (1987)). RNA was prepared from fresh peripheral-blood mononuclear cells or Epstein-Barr virus-transformed cell lines by acid guanidinium thiocyanate-phenol-chloroform extraction (Chomczynski et al., Anal. Biochem. 162:156-9 (1987)).

PCR and Restriction Enzyme and Sequence Analysis

[0047] Nested PCR (Sarkar et al., Science 244:331-4 (1989)) was used to amplify β cardiac myosin heavy-chain RNA from fresh peripheral-blood mononuclear cells and cell lines transformed by Epstein-Barr virus (see FIG. 1A). One to 2 μg of total RNA was reverse-t...

example 2

Determination of the Proportion of Families with Hypertrophic Cardiomyopathy Caused by Myosin Heavy-Chain Mutations

[0066] Twenty-five families were studied whose members have hypertrophic cardiomyopathy. Preliminary research had indicated that major structural abnormalities of the α or β cardiac myosin heavy-chain genes are not a common cause of FHC. RNase protection assays therefore were used to screen directly for point mutations or other small alterations in the β cardiac myosin heavy-chain gene which encodes the predominant isoform of myosin expressed in the ventricles of adults (Mahdavi et al., Nature 297:659-64 (1982); Lomprei et al., J. Biol. Chem. 259:6437-46 (1987)). The following general methodology was used in the example below.

[0067] The affected members of these twenty-five families have features typical of hypertrophic cardiomyopathy as assessed by physical examination, two-dimensional Doppler echocardiography and electrocardiography. The disease was inherited as an ...

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Abstract

A method is described for diagnosing individuals as having hypertrophic cardiomyopathy, e.g. familial or sporadic hypertrophic cardiomyopathy. The method provides a useful diagnostic tool which becomes particularly important when testing asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of familial hypertrophic cardiomyopathy may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for the disease may be counseled to take steps which hopefully would prolong their life, i.e. avoid rigorous exercise. The methodology used in the above method also has broad applicability and may be used to detect other disease-associated mutations in DNA obtained from subject being tested for other disease-associated mutations.

Description

RELATED APPLICATIONS [0001] The present application is a continuation application of U.S. application Ser. No. 10 / 788,779, filed Feb. 27, 2004, pending, which is a continuation of U.S. application Ser. No. 08 / 469, 172, filed Jun. 6, 1995, pending, which, in turn, is a continuation application of U.S. application Ser. No. 07 / 989,160, granted as U.S. Pat. No. 5,429,923, filed on Dec. 11, 1992. The contents of all of the aforementioned applications are hereby incorporated by reference.BACKGROUND [0002] The use of an individual's genetic information in the diagnosis of a disease is becoming more prevalent. Many diseases are caused by a defect in a single gene of an individual. All known autosomal dominant, autosomal recessive and x-linked disorders are believed to be caused by a defect in a single gene (Antonarakis, New England Journal of Medicine, Vol. 320, No. 3:153-63 (1981)). Genes responsible for some diseases or disorders have been cloned and characterized. The defect in the gene ...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68C12P19/34
CPCC12Q1/6883G01N2800/325C12Q2600/156C12Q2600/118C12Q2535/131
Inventor SEIDMAN, CHRISTINESEIDMAN, JOHNWATKINS, HUGHROSENZWEIG, ANTHONY
Owner SEIDMAN CHRISTINE
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