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The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption.
The worldwide prevalence rates for H63D, C282Y and S65C (minor allele frequencies) are 10%, 3% and 1% respectively. [ 29 ] [ 30 ] [ 31 ] The C282Y allele is a transition point mutation from guanine to adenine at nucleotide 845 in HFE , resulting in a missense mutation that replaces the cysteine residue at position 282 with a tyrosine amino acid ...
HFE H63D is cosmopolitan but occurs with greatest frequency in individuals of European descent. [ 21 ] [ 22 ] Allele frequencies of H63D in ethnically diverse western European populations are 10-29%. [ 23 ] and in North American non-Hispanic whites are 14-15%.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
The dbSNP can be searched using the Entrez SNP search tool. A variety of queries can be used for searching: an ss number ID, a refSNP number ID, a gene name, an experimental method, a population class, a population detail, a publication, a marker, an allele, a chromosome, a base position, a heterozygosity range, or a build number.
The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the body. Loss of heterozygosity does not imply a homozygous state (which would require the presence of two identical alleles in the cell).
The Knudson hypothesis, also known as the two-hit hypothesis, is the hypothesis that most tumor suppressor genes require both alleles to be inactivated, either through mutations or through epigenetic silencing, to cause a phenotypic change. [1]
A significantly lower proportion of HLA-DRB1 heterozygosity exists among HCV-infected cases than uninfected cases. The differences were more pronounced with alleles represented as functional supertypes (P = 1.05 × 10 −6 ) than those represented as low-resolution genotypes (P = 1.99 × 10 −3 ).