scholarly journals In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified

2001 ◽  
Vol 68 (3) ◽  
pp. 782-787 ◽  
Author(s):  
Prashiela Manga ◽  
Jennifer G.R. Kromberg ◽  
Angela Turner ◽  
Trefor Jenkins ◽  
Michele Ramsay
Keyword(s):  
Southern Africa ◽  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
P Gene

scholarly journals Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients

2003 ◽  
Vol 120 (5) ◽  
pp. 781-783 ◽  
Author(s):  
Tamio Suzuki ◽  
Yoshinori Miyamura ◽  
Jun Matsunaga ◽  
Hiroshi Shimizu ◽  
Yasuhiro Kawachi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
P Gene

P gene mutations associated with oculocutaneous albinism type II (OCA2)

2005 ◽  
Vol 25 (3) ◽  
pp. 323-323 ◽  
Author(s):  
William S. Oetting ◽  
Sarah Savage Garrett ◽  
Marcia Brott ◽  
Richard A. King
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
P Gene

scholarly journals The Epidemiology of Skin Cancer and Public Health Strategies for Its Prevention in Southern Africa

2020 ◽  
Vol 17 (3) ◽  
pp. 1017 ◽  
Author(s):  
Caradee Y. Wright ◽  
D. Jean du Preez ◽  
Danielle A. Millar ◽  
Mary Norval
Keyword(s):  
Skin Cancer ◽  
Cancer Prevention ◽  
Southern Africa ◽  
Communicable Disease ◽  
Behavioural Change ◽  
Oculocutaneous Albinism ◽  
Skin Cancer Prevention ◽  
African Countries ◽  
Solar Ultraviolet Radiation ◽  
Public Health Strategies

Skin cancer is a non-communicable disease that has been underexplored in Africa, including Southern Africa. Exposure to solar ultraviolet radiation (UVR) is an important, potentially modifiable risk factor for skin cancer. The countries which comprise Southern Africa are Botswana, Lesotho, Namibia, South Africa, and Swaziland. They differ in population size and composition and experience different levels of solar UVR. Here, the epidemiology and prevalence of skin cancer in Southern African countries are outlined. Information is provided on skin cancer prevention campaigns in these countries, and evidence sought to support recommendations for skin cancer prevention, especially for people with fair skin, or oculocutaneous albinism or HIV-AIDS who are at the greatest risk. Consideration is given to the possible impacts of climate change on skin cancer in Southern Africa and the need for adaptation and human behavioural change is emphasized.

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.

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

1994 ◽  
Vol 330 (8) ◽  
pp. 529-534 ◽  
Author(s):  
Seung-Taek Lee ◽  
Robert D. Nicholls ◽  
Sarah Bundey ◽  
Renata Laxova ◽  
Maria Musarella ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Prader Willi Syndrome ◽  
Ocular Albinism ◽  
P Gene

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.

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