Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination

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Topics

• Molecular genetics > Techniques > Molecular techniques
• Clinical/medical genetics > Disease related (typology of disorder)
• Molecular genetics > Studies of DNA > Studies of DNA (as a sequence) > Disease-associated alterations (mutation/deletion/duplication/insertion)
• Statistical genetics > Genetic epidemiology
• Clinical/medical genetics > Patient related
• Molecular genetics > Studies of DNA > Studies of DNA (as a sequence)

Abstract

Maple syrup urine disease (MSUD) is an autosomal recessive inborn error disorder derived from the accumulation of the branched-chain amino acids (BCAAs) leucine, isoleucine and valine. Either the E1a, E1b or DBT (E2) genes are responsible for this neurometabolic disease. Here, we report the identification and characterization of a novel E2 gene 4.7 kb deletion as a rare nonhomologous recombination of the long interspersed nuclear elements 1 (LINE-1) in intron 10 and the Alu in the 30 UTR of the E2 gene from three classic MSUD patients of the Austronesian aboriginal tribe Paiwan in Taiwan. The E2 gene 4.7 kb deletion accounted for five out of six alleles in the three unrelated Paiwanese MSUD patients, indicating a founder effect. Carrier-frequency study revealed one deleted heterozygote out of 101 normal Paiwanese. As the nine Taiwanese Austronesian aboriginal tribes share a common origin, this E2 4.7 kb deletion may be preserved in some of the other Austronesian aboriginal tribes of Taiwan. This is the first comprehensive genetics study of MSUD in the Austronesian tribal groups as well as in Taiwan.

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Ching-Shiang Chi, Chi-Ren Tsai, Liang-Hui Chen, Hsiu-Fen Lee, Betty Suk-Chun Mak, Shu-Hsuang Yang, Tsai-Yuh Wang, San-Ging Shu, and Chao-Hui Chen. Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination. EUROGENE portal. July 2009. online: http://eurogene.open.ac.uk/content/maple-syrup-urine-disease-austronesian-aboriginal-tribe-paiwan-taiwan-novel-dbt-e2-gene-47-k

Keywords

abnormal, allele, alpha, alternative splicing, amino acid, Analysis of the entire coding region: Sequence analysis, antigen, Ashkenazi Jewish, association, autosomal recessive, band, base, base pair, carrier, cell, cell line, chromosome, cis configuration, coding region, coding sequence, compound heterozygote, consensus sequence, cytoplasm, deletion, deoxyribonucleic acid, domain, dystrophin, epidermal growth factor, eukaryote, exon, expectation maximization algorithm, familial, founder, founder effect, frequency, gene, gene targeting, genetic counselling, genetic disease, genetics, genome, genomic dna, gray, heterogeneity, heterozygote, heterozygous, homologous, homologous recombination, homozygous, hotspot, human leucocyte antigen, incidence, informed consent, inherited, insertion, internal control, interstitial deletion, intron, kilobase, linkage, locus, long interspersed nuclear element, marker, messenger rna, metabolism, mitochondrial dna, mutant, mutation, new mutation, nucleotide, phenotype, point mutation, polymerase chain reaction, population, primer, proband, processing, protein, rearrangement, recombination, ribonucleic acid, screening, sequence, specie, splice site, splicing, syndrome, trait, untranslated region, variation

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