Mutation analysis of the TSC2 gene in an African-American family

A. Kumar, R. S. Kandt, C. Wolpert, A. D. Roses, Margaret A Pericak-Vance, John Gilbert

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Tuberous sclerosis complex is an autosomal dominant disorder with loci on chromosome 9q34 (TSC1) and chromosome 16p13.3 (TSC2). The TSC2 gene has been isolated. To date, only a small number of intragenic deletional and point mutations have been detected, almost exclusively in sporadic (no family history) cases. With the exception of a single parent/offspring pair, there have been no published reports of mutations in extended multigenerational chromosome 16-linked TSC2 families. For our TSC studies we ascertained and sampled a four-generation African-American TSC family that shows a high likelihood for linkage to chromosome 16 (z = 1.53). Using single-strand conformation polymorphism analysis we identified a 4590/4591delC mutation in exon 34. The 4590/4591delC causes a frameshift mutation resulting in the creation of a premature stop codon. In addition, we have detected a 5425del4 polymorphism in the two partially overlapping polyadenylation signals in exon 40 that segregates in the family. The polymorphism has been detected in six of 72 African-American control chromosomes examined, and has not been detected in 80 Caucasian control chromosomes examined.

Original languageEnglish
Pages (from-to)2295-2298
Number of pages4
JournalHuman Molecular Genetics
Volume4
Issue number12
StatePublished - Jan 1 1995
Externally publishedYes

Fingerprint

Chromosomes
African Americans
Chromosome
Mutation
Genes
Gene
Chromosomes, Human, Pair 16
Polymorphism
Exons
Single Parent
Polyadenylation
Frameshift Mutation
Tuberous Sclerosis
Nonsense Codon
Point Mutation
Conformation
Linkage
Exception
Overlapping
Locus

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Kumar, A., Kandt, R. S., Wolpert, C., Roses, A. D., Pericak-Vance, M. A., & Gilbert, J. (1995). Mutation analysis of the TSC2 gene in an African-American family. Human Molecular Genetics, 4(12), 2295-2298.

Mutation analysis of the TSC2 gene in an African-American family. / Kumar, A.; Kandt, R. S.; Wolpert, C.; Roses, A. D.; Pericak-Vance, Margaret A; Gilbert, John.

In: Human Molecular Genetics, Vol. 4, No. 12, 01.01.1995, p. 2295-2298.

Research output: Contribution to journalArticle

Kumar, A, Kandt, RS, Wolpert, C, Roses, AD, Pericak-Vance, MA & Gilbert, J 1995, 'Mutation analysis of the TSC2 gene in an African-American family', Human Molecular Genetics, vol. 4, no. 12, pp. 2295-2298.
Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert J. Mutation analysis of the TSC2 gene in an African-American family. Human Molecular Genetics. 1995 Jan 1;4(12):2295-2298.
Kumar, A. ; Kandt, R. S. ; Wolpert, C. ; Roses, A. D. ; Pericak-Vance, Margaret A ; Gilbert, John. / Mutation analysis of the TSC2 gene in an African-American family. In: Human Molecular Genetics. 1995 ; Vol. 4, No. 12. pp. 2295-2298.
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