No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity

✍ Scribed by Yu-Lin Ko; Shih-Ann Chen; Tang K. Tang; Jiunn-Lee Lin; Chern-En Chiang; Jin-Jer Chen; Ming-Sheng Teng; Mau-Song Chang; Wen-Pin Lien; Cheng-Wen Wu

• Publisher: Springer
• Year: 1994
• Tongue: English
• Weight: 298 KB
• Volume: 94
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00201594

✦ Synopsis

Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 1 l p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed to be affected, according to electrocardiographic criteria. Two genomic DNA probes (c-Ha-ras-3"-HVR and insulin-5"-HVR) and one tetranucleotide repeat polymorphism (THZ) derived from chromosome l lpl 5.5 loci and previously demonstrated to be closely linked to LQT were used as probes to analyze this family. A lod score of less than -2 was noted for all three polymorphisms. Our data show that there was no evidence of linkage between these three loci and the gene for LQT in this studied family. We believe that this result provides additional evidence for genetic heterogeneity of LQT.

introduction

The syndrome of congenital QT prolongation was first described by Jervell and Lange-Nielsen (1957). This syndrome, known as Jervell and Lange-Nielsen syndrome, was found to be associated with congenital deafness and an autosomal recessive inheritance. In1964, Romano et al. (1963) and Ward (1964) independently identified several