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Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
Hum Genet 1992; 90(3):208-10HG

Abstract

We analyzed the mitochondrial acetoacetyl-CoA thiolase gene (T2) by Southern blotting. Fifteen unrelated healthy individuals and members of five families with 3-ketothiolase deficiency (3KTD) were analyzed. We found a TaqI polymorphism, the heterozygosity of which was calculated to be 0.5 among healthy Japanese individuals. This restriction fragment length polymorphism (RFLP) proved to be useful for detecting 3KTD patients and its obligatory carriers, at the DNA level and in two out of five 3KTD families. This polymorphism was found to be generated by the presence/absence of a TaqI site in intron 9 of the T2 gene. With in vitro amplification of the genomic region around the TaqI site, this RFLP can be detected within 2 days.

Authors+Show Affiliations

Department of Pediatrics, Gifu University School of Medicine, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

1362557

Citation

Kuwahara, T, et al. "Identification of TaqI Polymorphism in the Mitochondrial acetoacetyl-CoA Thiolase Gene and Familial Analysis of 3-ketothiolase Deficiency." Human Genetics, vol. 90, no. 3, 1992, pp. 208-10.
Kuwahara T, Fukao T, Kano M, et al. Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency. Hum Genet. 1992;90(3):208-10.
Kuwahara, T., Fukao, T., Kano, M., Yamaguchi, S., Orii, T., & Hashimoto, T. (1992). Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency. Human Genetics, 90(3), pp. 208-10.
Kuwahara T, et al. Identification of TaqI Polymorphism in the Mitochondrial acetoacetyl-CoA Thiolase Gene and Familial Analysis of 3-ketothiolase Deficiency. Hum Genet. 1992;90(3):208-10. PubMed PMID: 1362557.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency. AU - Kuwahara,T, AU - Fukao,T, AU - Kano,M, AU - Yamaguchi,S, AU - Orii,T, AU - Hashimoto,T, PY - 1992/11/1/pubmed PY - 1992/11/1/medline PY - 1992/11/1/entrez SP - 208 EP - 10 JF - Human genetics JO - Hum. Genet. VL - 90 IS - 3 N2 - We analyzed the mitochondrial acetoacetyl-CoA thiolase gene (T2) by Southern blotting. Fifteen unrelated healthy individuals and members of five families with 3-ketothiolase deficiency (3KTD) were analyzed. We found a TaqI polymorphism, the heterozygosity of which was calculated to be 0.5 among healthy Japanese individuals. This restriction fragment length polymorphism (RFLP) proved to be useful for detecting 3KTD patients and its obligatory carriers, at the DNA level and in two out of five 3KTD families. This polymorphism was found to be generated by the presence/absence of a TaqI site in intron 9 of the T2 gene. With in vitro amplification of the genomic region around the TaqI site, this RFLP can be detected within 2 days. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/1362557/Identification_of_TaqI_polymorphism_in_the_mitochondrial_acetoacetyl_CoA_thiolase_gene_and_familial_analysis_of_3_ketothiolase_deficiency_ L2 - http://www.diseaseinfosearch.org/result/812 DB - PRIME DP - Unbound Medicine ER -