PMID- 10571953
OWN - NLM
STAT- MEDLINE
DCOM- 19991130
LR  - 20061115
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 6
DP  - 1999 Dec
TI  - Insertion/deletion mutations of type I oculocutaneous albinism in chinese
      patients from Taiwan.
PG  - 542
AB  - Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which
      is caused by the reduction or the absence of tyrosinase activity in melanocytes
      of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been
      extensively analyzed in most populations worldwide, there is no systemic study of
      OCA1 mutation in Chinese patients. By use of single strand conformation
      polymorphism and direct sequencing, we had detected 21 mutant alleles out of 24
      OCA1 chromosomes screened (87.5%). Detected mutant alleles include one splicing
      site, three insertion/deletion and five missense mutations, of which the splicing
      site nucleotide alteration (IVS 1-3C>G) and two each of the insertion/deletion
      (232-233 ins GGG and 861-862 del TT) and missense mutations (Cys 289 Gly and Trp 
      400 Leu) are novel. The ins/del mutations accounts for about 37.5% in Chinese
      OCA1 alleles. The 232-233 ins GGG, one of the novel mutations, was found to be
      most frequent (25%) among the OCA1 alleles in Chinese. Through this study, we
      found that while some of the OCA mutant alleles were identified in other
      populations, ethnic difference still exists. Hum Mutat 14:542, 1999.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Tsai, C H
AU  - Tsai CH
AD  - Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.
FAU - Tsai, F J
AU  - Tsai FJ
FAU - Wu, J Y
AU  - Wu JY
FAU - Lin, S P
AU  - Lin SP
FAU - Chang, J G
AU  - Chang JG
FAU - Yang, C F
AU  - Yang CF
FAU - Lee, C C
AU  - Lee CC
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  - EC 1.14.18.1 (Monophenol Monooxygenase)
SB  - IM
MH  - Albinism, Oculocutaneous/*enzymology/*genetics
MH  - Alleles
MH  - Base Sequence
MH  - China/ethnology
MH  - Humans
MH  - Monophenol Monooxygenase/*genetics
MH  - Mutagenesis, Insertional
MH  - Mutation, Missense
MH  - Polymorphism, Single-Stranded Conformational
MH  - RNA Splicing
MH  - Sequence Deletion
MH  - Taiwan
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3 [pii]
AID - 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3 [doi]
PST - ppublish
SO  - Hum Mutat. 1999 Dec;14(6):542. doi:
      10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3.