PMID- 10649493
OWN - NLM
STAT- MEDLINE
DCOM- 20000224
LR  - 20211203
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 2
DP  - 2000
TI  - Identification of P gene mutations in individuals with oculocutaneous albinism in
      sub-Saharan Africa.
PG  - 166-72
AB  - Oculocutaneous albinism (OCA) is an inherited disorder resulting in
      hypopigmentation of the skin, hair, and eyes. OCA type 2 (tyrosinase-positive) is
      the most common recessively inherited disorder among southern African Blacks.
      OCA2 is also seen in southern African Caucasoids, but is less frequent. The gene 
      responsible for this type of albinism, P, is the human homolog of the mouse
      pink-eyed dilution gene. Mutations at this locus are also responsible for the
      milder hypopigmentation phenotype seen in individuals with brown oculocutaneous
      albinism (BOCA). A common African P mutation was identified in Black OCA2
      individuals, and has since been shown to occur in Black individuals with brown
      OCA as well. This mutation is a 2.7 kb interstitial deletion. In this study, we
      undertook to screen the coding region of the P gene for mutations in the non-2.7 
      kb deletion alleles of OCA2 patients who did not carry the deletion allele in
      either one or both of their P genes. We identified four mutations (A334V,
      614delA, 683insG [corrected], 727insG) in a group of 39 unrelated Black OCA2
      patients with a total of 52 non-2.7 kb deletion OCA2 genes. When taking all OCA2 
      cases into consideration, including those homozygous for the 2.7 kb deletion
      mutation, these account for a further 1.7% of OCA2 mutations in southern African 
      Blacks, increasing the overall mutation detection rate to 78.7%. Three mutations 
      (E678K, L688F, I370T) were identified in a group of 15 Black patients with an
      initially unclassified type of OCA and another three mutations (IVS 14-2 (a-->g),
      V350M, P743L) were identified in nine Caucasoid OCA patients. Relatively few
      mutations, all with low frequency, were identified in the non-2.7 kb deletion OCA
      genes. We propose that other mutations may lie either within intronic sequence or
      within the promoter region of the gene.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Kerr, R
AU  - Kerr R
AD  - Department of Human Genetics, The South African Institute for Medical Research
      and University of the Witwatersrand, Johannesburg, South Africa.
FAU - Stevens, G
AU  - Stevens G
FAU - Manga, P
AU  - Manga P
FAU - Salm, S
AU  - Salm S
FAU - John, P
AU  - John P
FAU - Haw, T
AU  - Haw T
FAU - Ramsay, M
AU  - Ramsay M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Carrier Proteins)
RN  - 0 (Codon, Terminator)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (OCA2 protein, human)
SB  - IM
EIN - Hum Mutat 2000;16(1):following 86
MH  - Africa South of the Sahara
MH  - Albinism, Oculocutaneous/*genetics
MH  - Amino Acid Substitution
MH  - Blacks/genetics
MH  - Carrier Proteins/*genetics
MH  - Codon, Terminator/genetics
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Gene Frequency
MH  - Genes, Recessive/genetics
MH  - Genetic Variation/genetics
MH  - Genotype
MH  - Humans
MH  - Membrane Proteins/*genetics
MH  - *Membrane Transport Proteins
MH  - Mutation/*genetics
MH  - Phenotype
MH  - Pigmentation/genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sequence Deletion/genetics
MH  - Whites/genetics
EDAT- 2000/01/29 09:00
MHDA- 2000/02/26 09:00
CRDT- 2000/01/29 09:00
PHST- 2000/01/29 09:00 [pubmed]
PHST- 2000/02/26 09:00 [medline]
PHST- 2000/01/29 09:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z [pii]
AID - 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z [doi]
PST - ppublish
SO  - Hum Mutat. 2000;15(2):166-72. doi:
      10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z.