Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1)

M Nellist; P T Brook-Carter; J M Connor; D J Kwiatkowski; P Johnson; J R Sampson

doi:10.1136/jmg.30.3.224

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1)

J Med Genet. 1993 Mar;30(3):224-7. doi: 10.1136/jmg.30.3.224.

Authors

M Nellist¹, P T Brook-Carter, J M Connor, D J Kwiatkowski, P Johnson, J R Sampson

Affiliation

¹ Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.

Abstract

Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

ABO Blood-Group System / genetics
Calcium-Binding Proteins / genetics
Chromosome Mapping
Chromosomes, Human, Pair 9*
Dopamine beta-Hydroxylase / genetics
Female
Gelsolin
Genetic Linkage*
Genetic Markers
Haplotypes
Humans
Male
Microfilament Proteins / genetics
Pedigree
Polymorphism, Genetic
Recombination, Genetic
Tuberous Sclerosis / genetics*

Substances

ABO Blood-Group System
Calcium-Binding Proteins
Gelsolin
Genetic Markers
Microfilament Proteins
Dopamine beta-Hydroxylase