Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: Two novel frameshift mutations in the TYR gene

Molecular Vision

Volumn 10, Issue , 2004, Pages 1005-1010

  Sundaresan, Periasamy ^a   Sil, Asim Kumar ^b   Philp, Alisdair R ^c   Randolph, Mary A ^c   Natchiar, Govindappa ^d   NamperumalsamY, Perumalsamy ^d  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b Vivekananda Mission Asram   (India)

^c UNIVERSITY OF IOWA   (United States)

^d ARAVIND EYE HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MONOPHENOL MONOOXYGENASE; PRIMER DNA; MICROSATELLITE DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA ISOLATION; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENETIC COUNSELING; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; INDIA; LEUKOCYTE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; SEQUENCE ANALYSIS; CHEMISTRY; CHROMOSOME 11; FEMALE; GENETICS; MALE; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PEDIGREE; POLYMERASE CHAIN REACTION; STOP CODON;

ALBINISM, OCULOCUTANEOUS; CHROMOSOMES, HUMAN, PAIR 11; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; HAPLOTYPES; HUMANS; INDIA; MALE; MICROSATELLITE REPEATS; MOLECULAR BIOLOGY; MONOPHENOL MONOOXYGENASE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 23844460904     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. King RA, Summers CG. Albinism. Dermatol Clin 1988; 6:217-28.
2. King RA, Hearing VJ, Creel D, Oetting WS. Albnisim. In: Scriver CR, Beauder AL, Sly Ws, Vallee D. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, Health Professions Division; 1995. p. 4353-92.
3. Nance WE, Jackson CE, Witkop CJ Jr. Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet 1970; 22:579-86.
4. Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet 1991; 48:1159-67. Erratum in: Am J Hum Genet 1991; 49:696.
5. Shibahara S, Tomita Y, Tagami H, Muller RM, Cohen T. Molecular basis for the heterogeneity of human tyrosinase. Tohoku J Exp Med 1988; 156:403-14.
6. Takeda A, Tomita Y, Okinaga S, Tagami H, Shibahara S. Functional analysis of the cDNA encoding human tyrosinase precursor. Biochem Biophys Res Commun 1989; 162:984-90.
7. Giebel LB, Strunk KM, Spritz RA. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 1991; 9:435-45.
8. Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 1999; 13:99-115.
9. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989; 164:990-6.
10. Moumita Chaki, Arijit Mokhopadhyay, Madhusudan Das, Swapan Samata and Kunal Ray. Identification of a founder tyrosinase mutation causing oculocutaneous albinism in an endogamous caste population of west Bengal. 13th Annual Meeting of the Indian Eye Research Group; 2004 August 20-22; Chennai, India.
11. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215.
12. Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet 1993; 53:1173-9.
13. Halaban R, Svedine S, Cheng E, Smicun Y, Aron R, Hebert DN. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proc Natl Acad Sci U S A 2000; 97:5889-94.
14. Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Hum Mutat 1997; 10:171-4.