Tyrosinase gene mutations in oculocutaneous albinism�1 (OCA1): definition of the phenotype

2003 ◽  
Vol 113 (6) ◽  
pp. 502-513 ◽  
Author(s):  
Richard A. King ◽  
Jacy Pietsch ◽  
James P. Fryer ◽  
Sarah Savage ◽  
Marcia J. Brott ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
Tyrosinase Gene ◽  
Definition Of

scholarly journals Potential Founder Effect of Tyrosinase Gene Mutations in Oculocutaneous Albinism Families from West of Iran

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Faravareh Khordadpoor Deilamani ◽  
Mohammad Taghi Akbari
Keyword(s):  
Founder Effect ◽  
Gene Mutations ◽  
Homozygosity Mapping ◽  
Oculocutaneous Albinism ◽  
Founder Mutations ◽  
Single Base ◽  
Str Markers ◽  
Tyrosinase Gene ◽  
Similar Haplotype ◽  
Tyr Gene

Background: Non syndromic oculocutaneous albinism type (OCA) is caused by mutations in tyrosinase (TYR), OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes. Screening for mutations is important in families with oculocutaneous albinism patients in order to accurately diagnose the albinism type, genetic counseling and future therapeutic purposes. Objectives: The Aim of this study was to investigate the founder effect of most frequent mutations in OCA patients. Methods: TYR gene was sequenced in 26 unrelated inbred OCA families as well as 56 unrelated healthy individuals. In addition, homozygosity mapping was performed using 13 STR markers for 6 OCA loci (TYR, OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes). Different mutations were found in these genes from which a single base duplication (c.286dupA) and two single base substitutions c.996G > A (p.M332I) and c.230G > A (p.R77Q) had the most frequencies among the OCA families. In order to investigate the founder effect of these mutations, the haplotypes of two STR markers (TYR-S1 and TYR-S2) inside the TYR gene were ascertained. Results: It was revealed that families with similar mutation harbored similar haplotype for the TYR STR markers too. Conclusions: We conclude that these mutations are possible founder mutations in the Iranian population.

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions

1992 ◽  
Vol 43 (5) ◽  
pp. 865-871 ◽  
Author(s):  
Ram K. Tripathi ◽  
Kathleen M. Strunk ◽  
Lutz B. Giebel ◽  
Richard G. Weleber ◽  
Richard A. Spritz
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
Type I ◽  
Tyrosinase Gene

The R402Q mutation of the Tyrosinase Gene: Lack of Association with oculocutaneous albinism type 1 (OCA1).

2004 ◽  
Vol 17 (4) ◽  
pp. 427-427
Author(s):  
R. A. King ◽  
J. Pietsch ◽  
M. J. Brott ◽  
S. Savage ◽  
J. P. Fryer ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Tyrosinase Gene

scholarly journals A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

1990 ◽  
Vol 87 (9) ◽  
pp. 3255-3258 ◽  
Author(s):  
L. B. Giebel ◽  
K. M. Strunk ◽  
R. A. King ◽  
J. M. Hanifin ◽  
R. A. Spritz
Keyword(s):  
Gene Mutation ◽  
Oculocutaneous Albinism ◽  
Negative Type ◽  
Tyrosinase Gene ◽  
Type Ia

Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism

1992 ◽  
Vol 3 (3) ◽  
pp. 181-185 ◽  
Author(s):  
J MATSUNAGA ◽  
A TAKEDA ◽  
Y TOMITA ◽  
M HARA ◽  
S SHIBAHARA ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Oculocutaneous Albinism ◽  
Tyrosinase Gene

Polymorphic markers of the human tyrosinase gene for indirect gene diagnosis of tyrosinase-related oculocutaneous albinism (OCA1)

1998 ◽  
Vol 16 ◽  
pp. S149
Author(s):  
Jun Matsunaga ◽  
Muneo Tanita ◽  
Miwako Dakeishi-Hara ◽  
Eriko Nakamura ◽  
Yoshinori Miyamura ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Polymorphic Markers ◽  
Gene Diagnosis ◽  
Tyrosinase Gene ◽  
Human Tyrosinase

scholarly journals Tyrosinase gene mutations in the Chinese Han population with OCA1

2014 ◽  
Vol 96 ◽  
Author(s):  
NING LIU ◽  
XIANG DONG KONG ◽  
HUI RONG SHI ◽  
QING HUA WU ◽  
MIAO JIANG
Keyword(s):  
At Risk ◽  
Genetic Disorder ◽  
Severe Disease ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
Compound Heterozygous ◽  
Chinese Han ◽  
Essential Information ◽  
Prenatal Genetic Diagnosis

SummaryOculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk.

Prenatal diagnosis of oculocutaneous albinism by tyrosinase gene analysis

1993 ◽  
Vol 6 (1) ◽  
pp. 37
Author(s):  
Hiroshi Shimizu ◽  
Hironori Niizeki ◽  
Kaoru Suzumori ◽  
Ryoji Aozaki ◽  
Ryuji Kawaguchi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Gene Analysis ◽  
Tyrosinase Gene
Sign in / Sign up

Export Citation Format

Share Document