title: Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.
abstract: There is a need for country/population-specific databases because the existence of population-specific mutations for single gene disorders is well documented, and there is also good evidence for ethnic differences in the frequencies of genetic variations involved in complex disorders. Thus the Singapore Human Mutation/Polymorphism Database (SHMPD) was created to provide clinicians and scientists access to a central genetic database for the Singapore population. The data catalogued in the database include mutations identified in Singapore for Mendelian diseases, and frequencies of polymorphisms that have been investigated in either healthy controls or samples associated with specific phenotypes. Data from journal articles identified by searches in PubMed and other online resources, and via personal communications with researchers were compiled and assembled into a single database. Genes are categorized alphabetically and are also searchable by name and disease. The information provided for each variant of the gene includes the protein encoded, phenotype association, gender, size, and ethnic origin of the sample, as well as the reported genotype and allele frequencies, and direct links to the corresponding abstracts on PubMed. Our database will facilitate molecular diagnosis of Mendelian disorders and improve study designs for complex traits. It will be useful not only for researchers in Singapore, but also for those in countries with similar ethnic backgrounds, such as China, Taiwan, Hong Kong, Indonesia, and Malaysia.
authors.affiliation: Defense Medical and Environmental Research Institute, DSO National Laboratories, Republic of Singapore. tanec@bigfoot.com
authors.forename: Ene-choo
authors.initials: EC
authors.lastname: Tan
authors.forename: Marie
authors.initials: M
authors.lastname: Loh
authors.forename: Danny
authors.initials: D
authors.lastname: Chuon
authors.forename: Yun Ping
authors.initials: YP
authors.lastname: Lim
mesh_terms: D000483:Alleles; D030541:Databases, Genetic; D005260:Female; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000208:ethnology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D020407:Internet; D008297:Male; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D012737:Sex Factors; D012846:Singapore; D012984:Software