Large-scale molecular screening for galactosemia alleles in a pan-ethnic population

Human Genetics

Volumn 109, Issue 2, 2001, Pages 210-215

  Suzuki, M ^a   West, C ^a   Beutler, E ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

AFRICA; ALLELE; ARTICLE; ASIAN AMERICAN; CHROMOSOME VARIANT; CODON; ENZYME ANALYSIS; ETHNIC GROUP; GALACTOSEMIA; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; INBREEDING; INCIDENCE; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NEWBORN SCREENING; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; SURVIVAL; UNITED STATES;

ALLELES; CHROMOSOMES, HUMAN, PAIR 9; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GALACTOSEMIAS; GENE DELETION; GENETICS, POPULATION; GENOTYPE; HUMANS; INTRONS; MASS SCREENING; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0034839364     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100552     Document Type: Article

References (32)

1. Newborn screening: Principles and practice
2. Outcome of the patients detected by newborn screening in Japan
3. Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant
4. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population
5. A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency
6. The genetics of galactose-1-phosphate uridyl transferase deficiency
7. Classical galactosaemia in Chinese: A case report and review of disease incidence
8. Florida newborn screening for galactosemia
9. A common mutation associated with the Duarte galactosemia allele
10. A molecular approach to galactosemia
11. Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia
12. Molecular heterogeneity of classical and Duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis
13. The variant of galactosemia
14. Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles
15. Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)
16. The magnitude and challenge of false-positive newborn screening test results
17. A prevalent mutation for galactosemia among black Americans
18. The human Nramp2 gene: Characterization of the gene structure, alternative splicing, promoter region and polymorphisms
19. Newborn screening for galactosemia and other galactose metabolic defects
20. The molecular basis of transferase galactosaemia in South African negroids
21. Electrophoretic variation of galactose-1-phosphate uridyltransferase
22. Polymorphism of human galactose-1-phosphate uridyl transferase
23. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers
24. A new variant of galactose-1-phosphate uridyltransferase in man: The Los Angeles variant
25. Biochemical and molecular studies of 132 patients with galactosemia
26. Allelic heterogeneity of the galactose-1-phosphate uridyltransferase gene: Biochemical and clinical phenotypes
27. The relationship of the -5, -8, and -24 variant alleles in African Americans to triosephosphate isomerase (TPI) enzyme activity and to TPI deficiency
28. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y
29. Molecular and biochemical basis of galactosemia
30. Direct detection of multiple point mutations in mitochondrial DNA
31. Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese
32. Molecular characterization of Polish patients with classical galactosaemia