No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a chinese family: evidence for genetic heterogeneity

Yu Lin Ko*, Wen Pin Lien, Jin Jer Chen, Chen Wen Wu, Tang K. Tang, Choong Chin Liew

*Corresponding author for this work

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

To understand the molecular basis of familial hypertrophic cardiomyopathy (FHC) in the Chinese population, a family with FHC was investigated. Nineteen family members who were 16 years of age or older were examined by M-mode or two-dimensional echocardiography. Eight members were diagnosed to be affected echocardiographically or clinically. Lymphocytes isolated from 20 family members were successfully transformed into permanent lymphoblastoid cell lines by Epstein-Barr virus. Three genomic DNA probes (CRI-L436, CRI-L329, and pSC14) that were derived from chromosome 14q1 loci and demonstrated to be linked closely to FHC were used to probe this family. Using the techniques of restriction fragment length polymorphism (RFLP) and linkage analysis, the probe CRI-L436, which recognized locus D14S26, was found informative in this family. The lod scores were -2.0 at θ = 0.025 and -1.49 at θ = 0.05. Thus, there was no evidence of linkage between the locus D14S26 and the gene for FHC in the pedigree studied. In addition, polymerase chain reaction (PCR) amplification did not indicate a mutation on exon 13 of the β cardiac myosin heavy chain gene as previously reported. Our data suggest that FHC is a genetically heterogeneous disease.

Original languageEnglish
Pages (from-to)597-601
Number of pages5
JournalHuman Genetics
Volume89
Issue number6
DOIs
StatePublished - Aug 1992

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