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Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
Biochem Genet. 2012 Dec; 50(11-12):871-80.BG

Abstract

Classical galactosemia is a genetic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The Q188R and N314D mutations are the most frequently cited GALT gene mutations. N314D is further associated with two variants, Duarte 1 and Duarte 2. Nevertheless, no reports are available on the clinical and molecular spectrum of galactosemia from the Indian population. The present study was designed to establish the frequency of these two most common mutations and their variants in Indian galactosemia patients so as to determine a single most common mutation/polymorphism for establishing the DNA-based diagnosis of galactosemia. Three alleles were found to be present at a frequency of 0.036 (Q188R), 0.40 (N314D), and 0.39 (D2); no D1 alleles were found. A significantly higher frequency of the Duarte 2 allele in our population suggests the presence of a milder form of galactosemia, which can be well managed by early diagnosis and dietary management.

Authors+Show Affiliations

Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.No 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

22798028

Citation

Singh, Ramandeep, et al. "Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population." Biochemical Genetics, vol. 50, no. 11-12, 2012, pp. 871-80.
Singh R, Thapa BR, Kaur G, et al. Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population. Biochem Genet. 2012;50(11-12):871-80.
Singh, R., Thapa, B. R., Kaur, G., & Prasad, R. (2012). Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population. Biochemical Genetics, 50(11-12), 871-80. https://doi.org/10.1007/s10528-012-9527-z
Singh R, et al. Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population. Biochem Genet. 2012;50(11-12):871-80. PubMed PMID: 22798028.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population. AU - Singh,Ramandeep, AU - Thapa,Babu R, AU - Kaur,Gurjit, AU - Prasad,Rajendra, Y1 - 2012/07/15/ PY - 2011/07/30/received PY - 2012/06/20/accepted PY - 2012/7/17/entrez PY - 2012/7/17/pubmed PY - 2013/4/18/medline SP - 871 EP - 80 JF - Biochemical genetics JO - Biochem Genet VL - 50 IS - 11-12 N2 - Classical galactosemia is a genetic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The Q188R and N314D mutations are the most frequently cited GALT gene mutations. N314D is further associated with two variants, Duarte 1 and Duarte 2. Nevertheless, no reports are available on the clinical and molecular spectrum of galactosemia from the Indian population. The present study was designed to establish the frequency of these two most common mutations and their variants in Indian galactosemia patients so as to determine a single most common mutation/polymorphism for establishing the DNA-based diagnosis of galactosemia. Three alleles were found to be present at a frequency of 0.036 (Q188R), 0.40 (N314D), and 0.39 (D2); no D1 alleles were found. A significantly higher frequency of the Duarte 2 allele in our population suggests the presence of a milder form of galactosemia, which can be well managed by early diagnosis and dietary management. SN - 1573-4927 UR - https://www.unboundmedicine.com/medline/citation/22798028/Frequency_distribution_of_Q188R_N314D_Duarte_1_and_Duarte_2_GALT_variant_alleles_in_an_Indian_galactosemia_population_ L2 - https://doi.org/10.1007/s10528-012-9527-z DB - PRIME DP - Unbound Medicine ER -