Scientific Publication Independent computational study on novel mutation correlated to FH
Familial hypercholesterolemia in Asia: A Review Alex Livy et al. (2011) OMICS 1(1): 22-31
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OMICS Publishing Group This review provides an update on recent studies conducted in the Asia–Pacific Region in the area of genotyping for SNP/Mutation association with Familial hypercholesterolemia (FH), diagnosis and management of subjects with Familial hypercholesterolemia. It has always been thought that there are limited studies conducted on this complex disease in this part of the world but surprisingly there has been a growing interest in this disease and its awareness. FH is associated with premature coronary heart disease. Early detection and treatment of FH, may save many lives because up to 30% of patients do not survive an initial myocardial infarction (MI). The research being done on FH by individual groups have been encouraging. However, there has been an international drive to implement screening in all countries for FH but very few countries have heeded to the call. Appropriate genetic tests should be adopted by government on a national level for screening. The adoption by the government would benefit not only the individual suspected of FH, but the immediate family members too, as cascade screening can be recommended for all positively diagnosed FH patients. The lack of active involvement in FH has prompted INFOVALLEY® to take the initiative to engage in FH studies for Asian population. Such DNA test is commercially known as INFOHaem® MSS FH1536. It allows DNA diagnosis of FH, at any age and before overt clinical symptoms develop. If a parent has FH there is a strong likelihood, 50% or more, that their children have it.
Mutation Asp. 407 lys Arg 3500 Trp Ala 519 Thr Arg3500Gln Arg3531Cys Asp100Asp Asp139His Arg471Gly C.1705+117 T>G C.1186+41T>A 1705+112C>G Trp666ProfsX45 rs688 rs5925 M412T D151Y M391T C317S F382L W512X P664L C337R W556C A410T L547V E693K K790X Tyr358Cys Ser587Pro C83Y C675X 941-1G>A -136C>T F382L R574Q 1846-1G>A P664L E119K E207X E207K Glu161X Cys210Tyr Pro584Leu C112Y T383I D129G C210R W462X C122Y and T383I p.W483X p.A627T C263R C107Y D69N R385W W462X G170X V408M T3540M R3500W M510K W512R I420T C660W H562Y A606T P664L
Gene Exon-9 (LDLR) Apo B 100 Exon-11 LDLR APOB APOB LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR exon-12 LDLR exon-12 LDLR LDLR LDLR LDLR LDLR LDLR LDLR Exon-8 LDLR Exon-12 LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR LDLR APOB APOB LDLR LDLR LDLR LDLR LDLR LDLR LDLR
Country Singapore Singapore Malaysia Malaysia Malaysia Malaysia Malaysia Malaysia Malaysia Malaysia Malaysia Malaysia Pakistan Pakistan Thailand Thailand Thailand Japan Japan Japan Japan Japan Japan Japan Japan Japan Japan Japan Japan Korea Korea Korea Korea Korea Korea Korea Korea Korea Korea Korea Korea Korea Korea China China China China China China China China Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan Taiwan
A list of mutations reported from Asia.
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