Frequency distribution of Q188R, N314D, duarte 1, and duarte 2 GALT variant alleles in an Indian galactosemia population

Biochemical Genetics

Volumn 50, Issue 11-12, 2012, Pages 871-880

  Singh, Ramandeep ^a   Thapa, Babu R ^a   Kaur, Gurjit ^b   Prasad, Rajendra ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^b GOVERNMENT MEDICAL COLLEGE AND HOSPITAL   (India)

Author keywords

Allele; Duarte; GALT; Mutations; Polymorphisms

Indexed keywords

DUARTE 1; DUARTE 2; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GENOMIC DNA; UNCLASSIFIED DRUG;

ARTICLE; CHOLESTASIS; CONTROLLED STUDY; GALACTOSEMIA; GALT GENE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; INDIAN; INFANT; MAJOR CLINICAL STUDY; POPULATION GENETICS;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; ERYTHROCYTES; GALACTOSEMIAS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INDIA; INFANT; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84871182082     PISSN: 00062928     EISSN: 15734927     Source Type: Journal    
DOI: 10.1007/s10528-012-9527-z     Document Type: Article

References (26)

1. Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin H, Reichardt J, Ishiki G (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese. Hum Mutat 6:36-43.
2. Beutler E, Baluda MC (1966) A simple spot screening test for galactosemia. J Lab Clin Med 68:137-141.
3. Daly AK, Steen VM, Fairbrother KS, Idle JR (1996) CYP2D6 multiallelism. Method Enzymol 272:199-210. (Pubitemid 26299883)
4. Elsas LJ, Fridovich-Keil JL, Leslie N (1993) Galactosemia: a molecular approach to the enigma. Int Pediatr 8:101-109.
5. Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP (1995a) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 56:630-639.
6. Elsas LJ, Palk EM, Langley S, Hjelm LN, Dembure PP (1995b) A molecular approach to galactosemia. Eur J Pediatr 154:S21-S27.
7. Elsas LJ, Webb AL, Langley SD (2002) Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase. Mol Genet Metab 76:287-296.
8. Field TL, Reznikoff WS, Frey PA (1989) Galactose-l-phosphate uridylyltransferase: identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis. Biochemistry 28:2094-2099.
9. Frey PA (1996) The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose. FASEB J 10:461-470. (Pubitemid 26120321)
10. Fridovich-Keil J, Jinks-Robertson S (1993) A yeast expression system for human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci USA 90:398-402. (Pubitemid 23028869)
11. Gathof B, Sommer M, Podskarbi R, Reichardt J, Braum A, Gresser U, Shin YS (1995) Characterization of two stop codon mutations in the galactose-1- phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation. Hum Genet 96:721-725.
12. Goldstein N, Cohen Y, Pode-Shakked B, Sigalov E, Vilensky B, Peleg L, Anikster Y (2011) The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population. Mol Genet Metab 102:157-160.
13. Greber-Platzer S, Guldberg P, Scheibenreiter S, Item C, Schuller E, Strobl W (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturating gradient gel electrophoresis. Hum Mutat 10(1):49-57. (Pubitemid 27298949)
14. Holton JB, Walter JH, Tyfield LA (2001) Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 1553-1583.
15. Horvath A, Gyurus P, Kis A, Laszlo A, Schuler A, Kosztolanyi G, Melegh B (2000) Distribution of Q188R and N314D mutations in the Hungarian galactosemic population. Hum Mutat 16:91.
16. Kirkman HW, Maxwell ES (1960) Enzymatic estimation of erythrocytic galactose-l-phosphate. J Lab Clin Med 56:161-166.
17. Kozak L, Francova H, Pijackova A, Macku J, Stastna S, Peskovova K, Martincova O, Krijt J (1999) Presence of a deletion in the 50 upstream region of the GALT gene in Duarte (D2) alleles. J Med Genet 36:576-578. (Pubitemid 29301606)
18. Kozak L, Francova H, Fajkusov L, Pijackova A, Macku JMS, Peskovova K, Martincová O, Krijt J, Bzdúch V (2000) Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). Hum Mutat 15:206.
19. Lai K, Langley S, Dembure P, Hjelm L, Elsas L (1998) Duarte allele impairs biostability of galactose-1- phosphate uridyltransferase in human lymphoblasts. Hum Mutat 11:28-38. (Pubitemid 128679146)
20. Langley S, Lai K, Dembure P, Hjelm L, Elsas L (1997) Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet 60:366-372. (Pubitemid 27058407)
21. Murphy M, Sexton D, O'Neill C, Croke DT, Mayne PD, Naughten ER (1996) Frequency distribution of the Q188R mutation in the Irish galactosemic population. J Inher Metab Dis 19:217-219. (Pubitemid 26137521)
22. Ng WG, Bergren WR, Donnell GN (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant. Ann Hum Genet 37:1-8.
23. Podskarbi T, Reichardt J, Shin YS (1994) Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany. J Inher Metab Dis 17:149-150. (Pubitemid 24110995)
24. Reichardt J, Woo S (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci USA 88:2633-2637. (Pubitemid 21916472)
25. Trbusek M, Francova H, Kozak L (2001) Galactosemia: deletion in the 50 upstream region of the GALT gene reduces promoter efficiency. Hum Genet 109:117-120. (Pubitemid 32743201)
26. Tyfield L, Reichardt J, Fridoviuch-Keil J, Croke DT, Elsas LJ, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 13:417-430. (Pubitemid 29270012)