Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings

Article ID	Journal	Published Year	Pages	File Type
5907038	Gene	2012	5 Pages	PDF

Abstract

âº TYR and OCA2 are two major OCA loci in India. âº SLC24A5 and TYRP2 also need to be screened for albinism related phenotype in India. âº Variable phenotypes in OCA2 mutants highlight the need for further investigation.

Keywords

CSIR PHE ALA Cys LEU μL ASN OCA SIP DcT et al.Cytidine E. coli Council of Scientific and Industrial Research DHICA OCA2 SLC24A5 SLC45A2 Carboxy terminal PMEL17 aroA MATP P gene SIFT INS mRNA DOPA MAF MLP DNA HET Adenosine Arginine Asparagine alanine oculocutaneous albinism ocular albinism Arg deoxyribonucleic acid glutamic acid Escherichia coli Insertion isoleucine Ile SER i.e.dopachrome tautomerase deletion DEL dihydroxyphenylalanine messenger ribonucleic acid Serine Cysteine minor allele frequency polymorphism phenotyping Phenylalanine not applicable Leucine Lysine LYS Methionine Sorting Intolerant From Tolerant MET MIM hom Mendelian Inheritance in Man milliliter Microliter nanogram PRO heterozygous homozygous polymerase chain reaction PCR Proline PolyPhen Glu Gly Glycine guanosine

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings

Authors

M. Mondal, M. Sengupta, S. Samanta, A. Sil, K. Ray,