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Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations
- Source :
- The American Journal of Human Genetics. 62(1):86-97
- Publication Year :
- 1998
- Publisher :
- Elsevier BV, 1998.
-
Abstract
- SummaryTo facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations. Both genomic mutations and their effects on cDNA were characterized. Protein-truncation testing of the entire ATM cDNA detected 92 (66%) truncating mutations in 140 mutant alleles screened. The haplotyping of patients with identical mutations indicates that almost all of these represent common ancestry and that very few spontaneously recurring ATM mutations exist. Assays requiring minimal amounts of genomic DNA were designed to allow rapid screening for common ethnic mutations. These rapid assays detected mutations in 76% of Costa Rican patients (3), 50% of Norwegian patients (1), 25% of Polish patients (4), and 14% of Italian patients (1), as well as in patients of Amish/Mennonite and Irish English backgrounds. Additional mutations were observed in Japanese, Utah Mormon, and African American patients. These assays should facilitate screening for A-T heterozygotes in the populations studied.
- Subjects :
- Male
Heterozygote
DNA, Complementary
Protein truncation mutation screening
ATM gene
DNA Mutational Analysis
Founder mutations
Cell Cycle Proteins
Ataxia Telangiectasia Mutated Proteins
Protein Serine-Threonine Kinases
Biology
medicine.disease_cause
Loss of heterozygosity
Ataxia Telangiectasia
Ethnicity
medicine
Genetics
Humans
Genetics(clinical)
Allele
Gene
Genetics (clinical)
Mutation
Mutation detection, rapid assays
Tumor Suppressor Proteins
Racial Groups
Haplotype
Proteins
medicine.disease
DNA-Binding Proteins
genomic DNA
Haplotypes
Ataxia-telangiectasia
RNA
Female
Ethnic populations
Ataxia-telangiectasia mutations
Research Article
Founder effect
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 62
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- The American Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....326ccef57f37a9dde846de17f4998279
- Full Text :
- https://doi.org/10.1086/301673