Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?
نویسندگان
چکیده
منابع مشابه
The p.Cys169Tyr variant of connexin 26 is not a polymorphism
Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe hearing loss in two Qatari families. We have analyzed the effect of this mutation using a combinat...
متن کاملClinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
OBJECTIVES The aim of the study is to assess clinical characteristics of individuals with nonsyndromic sensorineural hearing loss (NSSNHL) with genetic mutations in GJB2 and/or GJB6. We describe and compare one group with biallelic mutations against a group of heterozygote mutation carriers. METHODS A total of 350 patients between the ages of 3 months and 80 years referred to a tertiary care ...
متن کاملGenetic analysis of the connexin-26 M34T variant.
EDITOR—Existing published data cannot conclusively determine if the M34T allele of connexin-26 (GJB2) is a recessive allele causing hearing loss. The recent article by Houseman et al (J Med Genet 2001;38:20-5) “Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/ M34T segregating with mild-moderate nonsyndromic sensorineural hearing loss,” does not resolve this que...
متن کاملHeterozygote Advantage for Fecundity
Heterozygote advantage, or overdominance, remains a popular and persuasive explanation for the maintenance of genetic variation in natural populations in the face of selection. However, despite being first proposed more than 80 years ago, there remain few examples that fit the criteria for heterozygote advantage, all of which are associated with disease resistance and are maintained only in the...
متن کاملHeterozygote advantage for the phenylketonuria allele.
Mean weight at birth of unaffected (normal homozygous and PKU heterozygous) offspring of parents heterozygous for the phenylketonuria (PKU) allele averages significantly above that of Norwegian neonates, with no significant difference in mean age of mothers or in mean parity. It approaches the optimal birthweight--that which confers the minimum overall mortality in the pre-, peri-, and postnata...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2014
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2014.151