Prenatal diagnosis of phenylketonuria

Indian Journal of Medical Research

Volumn 122, Issue 5, 2005, Pages 400-403

  Kohli, Sudha ^a   Saxena, Renu ^a   Thomas, Elizabeth ^a   Rao, Pradeep ^b   Verma, I C ^a  

^a SIR GANGA RAM HOSPITAL   (India)

^b Genetic Laboratory and Research Centre   (India)

Author keywords

Molecular studies; Phenylalanine hydroxylase (PAH) gene; Phenylketonuria (PKU); Prenatal diagnosis

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

3' UNTRANSLATED REGION; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; DIET THERAPY; FEMALE; FETUS; GENE CASSETTE; HETEROZYGOTE; HUMAN; INTRON; LINKAGE ANALYSIS; MUTANT; PHENYLKETONURIA; PRENATAL DIAGNOSIS; PROTEIN RESTRICTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHORT TANDEM REPEAT; VARIABLE NUMBER OF TANDEM REPEAT;

ELECTROPHORESIS, AGAR GEL; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); MINISATELLITE REPEATS; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRENATAL DIAGNOSIS;

EID: 33144479900     PISSN: 09715916     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Kaur M, Das GP, Verma IC. Inborn errors of amino acid metabolism in north India. J Inherit Metab Dis 1994; 17 : 230-3.
2. Sridhar Rama Rao BS, Narayanan HS, Narayana Reddy GN. Biochemical investigations in five patients with phenylketonuria. Indian J Med Res 1970; 58 : 1753-7.
3. Verma IC. Genetic disorders in India. In: Verma IC, editor. Medical genetics in India. Vol. 1. Pondicherry: Auroma Enterprises; 1978 p. 5-16.
4. Appaji Rao N. Genetic consequences of inbreeding in a large human population. Proc Indian Natl Sci Acad 1991; 57 : 361-8.
5. http://www.pahdb.mcgill.ca. Last accessed on 21.12.2004.
6. Shih VE, editor. Laboratory techniques for the detection of hereditary metabolic disorders. Malabar, Florida: CRC Press. Robert E Krieger Publishing Company; 1982.
7. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16 : 1215.
8. Old JM. Gene analysis. In: Weatherall DJ, editor. Methods in haematology: The thalassaemias. Edinburgh: Churchill Livingstone; 1982 p. 74-102.
9. Eisensmith RC, Goltsov AA, Woo SL. A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria. Prenat Diagn 1994; 14 : 1113-8.
10. Daiger SP, Lidsky AS, Chakraborty R, Koch R, Guttler F, Woo SL. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria. Lancet 1986; i : 229-32.
11. Huang S, Fang B, Chu H. Analysis of short tandem repeats polymorphism in the phenylalanine hydroxylase gene and its application to prenatal gene diagnosis of phenylketonuria. Zhonghua Yi Xue Za Zhi 1995; 75 : 22-4, 61.
12. Fan GX, Qing LX, Jun Y, Mei Z. Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients. Southeast Asian J Trop Med Public Health 1999; 30 (Suppl 2) : 63-5.
13. Romano V, Dianzani I, Ponzone A, Zammarchi E, Eisensmith R, Ceratto N, et al. Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria. Prenat Diagn 1994; 14 : 959-62.
14. Chakraborty R, Lidsky AS, Daiger SP, Guttler F, Sullivan S, Dilella AG, et al. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet 1987; 76: 40-6.