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Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
Hum Mutat. 1999; 13(4):339.HM

Abstract

Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 84% of all mutant alleles were identified in this study. The most common molecular defect observed in the Turkish population was Q188R (replacement of glutamine-188 by arginine) (57%). In order to facilitate the determination of unknown mutations in the entire coding region of GALT, we established an approach based on GALT cDNA synthesis and direct sequencing. We have identified one novel candidate galactosemia mutation, a T-to-A transversion at the codon 294 (F294Y) in exon 9 in addition to previously reported three missense (M142K K285N, A320T), one stop codon (E340X), and one silent (L218L) mutations in galactosemia patients which reflect considerable genetic heterogeneity in the Turkish population.

Authors+Show Affiliations

Department of Medical Biology, Hacettepe University, Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. vseyran@tr-net.net.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10220154

Citation

Seyrantepe, V, et al. "Identification of Mutations in the Galactose-1-phosphate Uridyltransferase (GALT) Gene in 16 Turkish Patients With Galactosemia, Including a Novel Mutation of F294Y. Mutation in Brief No. 235. Online." Human Mutation, vol. 13, no. 4, 1999, p. 339.
Seyrantepe V, Ozguc M, Coskun T, et al. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Hum Mutat. 1999;13(4):339.
Seyrantepe, V., Ozguc, M., Coskun, T., Ozalp, I., & Reichardt, J. K. (1999). Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Human Mutation, 13(4), 339.
Seyrantepe V, et al. Identification of Mutations in the Galactose-1-phosphate Uridyltransferase (GALT) Gene in 16 Turkish Patients With Galactosemia, Including a Novel Mutation of F294Y. Mutation in Brief No. 235. Online. Hum Mutat. 1999;13(4):339. PubMed PMID: 10220154.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. AU - Seyrantepe,V, AU - Ozguc,M, AU - Coskun,T, AU - Ozalp,I, AU - Reichardt,J K, PY - 1999/4/29/pubmed PY - 2000/6/22/medline PY - 1999/4/29/entrez SP - 339 EP - 339 JF - Human mutation JO - Hum Mutat VL - 13 IS - 4 N2 - Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 84% of all mutant alleles were identified in this study. The most common molecular defect observed in the Turkish population was Q188R (replacement of glutamine-188 by arginine) (57%). In order to facilitate the determination of unknown mutations in the entire coding region of GALT, we established an approach based on GALT cDNA synthesis and direct sequencing. We have identified one novel candidate galactosemia mutation, a T-to-A transversion at the codon 294 (F294Y) in exon 9 in addition to previously reported three missense (M142K K285N, A320T), one stop codon (E340X), and one silent (L218L) mutations in galactosemia patients which reflect considerable genetic heterogeneity in the Turkish population. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/10220154/Identification_of_mutations_in_the_galactose_1_phosphate_uridyltransferase__GALT__gene_in_16_Turkish_patients_with_galactosemia_including_a_novel_mutation_of_F294Y__Mutation_in_brief_no__235__Online_ L2 - https://doi.org/10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S DB - PRIME DP - Unbound Medicine ER -