title: Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
abstract: OBJECTIVE
  Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye. OCA1 is an autosomal recessive genetic disorder caused by mutations in the TYR gene located at chromosome band 11q14-q25. The purpose of this study was to carry out genetic analysis of OCA1 in Indian families.
  
  
  METHODS
  Genomic DNA was isolated from blood leukocytes of all the individuals in this study. Haplotype analysis was performed at the TYR locus using informative microsatellite markers. Eight sets of primers were used to amplify the entire coding region of the TYR gene for bidirectional direct sequencing mutation analysis.
  
  
  RESULTS
  Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
  
  
  CONCLUSIONS
  Our study reports the distribution of two novel frameshift and a previously reported nonsense mutations in four OCA1 families from the Indian population. These findings will contribute to the development of a diagnostic method for OCA1 carrier status and genetic counseling for OCA1 affected families.
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India. sundar@aravind.org
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
authors.forename: Asim Kumar
authors.initials: AK
authors.lastname: Sil
authors.forename: Alisdair R
authors.initials: AR
authors.lastname: Philp
authors.forename: Mary A
authors.initials: MA
authors.lastname: Randolph
authors.forename: Govindappa
authors.initials: G
authors.lastname: Natchiar
authors.forename: Perumalsamy
authors.initials: P
authors.lastname: Namperumalsamy
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D016368:Frameshift Mutation; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D018895:Microsatellite Repeats; D008967:Molecular Biology; D014442:Monophenol Monooxygenase / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D018389:Codon, Nonsense; D017931:DNA Primers; D014442:Monophenol Monooxygenase