Familial gene analysis for Wilson disease from north-west Indian patients

Annals of Human Biology

Volumn 33, Issue 2, 2006, Pages 177-186

  Kumar, Sandeep ^a   Thapa, Babu Ram ^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

Asymptomatic diagnosis; ATP7B; Mutations; Restriction fragment length polymorphism; Wilson disease

Indexed keywords

ABNORMALITY; GENE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM;

ASIA; EURASIA; INDIA; SOUTH ASIA;

EID: 33646802942     PISSN: 03014460     EISSN: 14645033     Source Type: Journal    
DOI: 10.1080/03014460500503275     Document Type: Article

References (16)

1. Ainsworth PJ, Surh LC, Coulter MMB. 1991. Diagnostic single strand conformation polymorphism (SSCP): A simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant. Nucleic Acid Res 21:405-406.
2. Bissig KD, Wunderliye H, Duda PW, Solioz M. 2001. Structure and function analysis of purified Enterococcus hirae CopB Copper ATPase: effect of Menkes/Wilson disease mutation homologues. Biochem J 357:217-223.
3. Ferenci P. 2001, Wilson disease Indian J Gastroenterol 20:C71-C78.
4. Kumar S, Thapa BR, Kaur G, Prasad R. 2005. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: Genotype. Clin Genet 65:443-445.
5. Loudianos G, Dessi V, Lovicu M, Angius A, Altuntas B, Giacchino R, Marazzi M, Marcellini M, Sartorelli MR. 1998. Further delineation of molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat 12:89-94.
6. Ohya K, Abo W, Tamaki H, Sugawara C, Endo T, Nomachi S, Matsuura A. 2002. Presymptomatic diagnosis of Wilson disease associated with a novel mutation of ATP7B gene. Eur J Pediatr 161:124-126.
7. Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM, Cayanis E, Vitale E, Russo JJ, et al. 1993. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nature Genet 5:338-343.
8. Prasad R, Kaur G, Walia BNS. 1998. A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives. Biol Trace Element Res 65:153-165.
9. Prasad R, Kaur G, Walia BNS. 1996. Molecular basis of pathophysiology of Indian childhood cirrhosis. Role of nuclear copper accumulation in liver. Mol Cell Biochem 156:25-30.
10. Prasad R, Kumar S, Kaur G, Thapa BR. 2004. Mutational analysis of ATP7B and genotype-phenotype correlation in Indian Wilson disease patients. Am J Hum Genet PSA (Poster session abstract) 75:1758, 325.
11. Prasad R, Kaur G, Kumar S, Thapa BR. 2005. Two novel mutations (2976insA, 4311insA) of ATP7B in a Wilson disease patient coexisting with glucose-6-phosphate dehydrogenase deficiency. J Gastroenterol Hepatol 20:661-663.
12. Roberts EA, Schilsky ML. 2003. A practical guideline on Wilson disease. Hepatology 37:1475-1492.
13. Scheinberg IH, Sternlieb I. 1984. Major problems in internal medicine. In: Smith LH, editor. Wilson disease. Philadelphia: WB Saunders. pp 10-12.
14. Sweadner KJ, Dennet C. 2001. Structure similarities of Na, K-ATPase and SERCA, the Ca (2+) ATPase of the sarcoplasmic reticulum. Biochem J 376:685-704.
15. Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T. 2002. Two families with WD in which siblings showed different phenotype. J Hum Genet 47:543-547.
16. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Diana WC. 1995. The WD gene: Spectrum of mutations and their consequences. Nat Genet 9:210-217.