Unauffälliges UNHS-Screening bei einem homozygoten Träger der 35delG-Mutation im Connexin 26 kodierenden gjb2-Gen
نویسندگان
چکیده
منابع مشابه
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.
Despite the large number of genes that are expected to be involved in non-syndromal, recessive deafness, only a few have been cloned. One of these genes is GJB2, which encodes connexin 26. A frameshift mutation in this gene has been reported to be common in several populations and a carrier frequency of about 1 in 30 people has been detected in Italy and Spain. Mutation 35delG is difficult to d...
متن کاملA common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the high frequency of this allelic variant is the result of a founder effect rather than a mutational ...
متن کاملFrequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment
Background Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profo...
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Informatische Unterrichtsinhalte lassen sich erfolgreicher vermitteln, wenn Anwendungsbezüge zur Erfahrungswelt und zum Interessenfeld der Lernenden geschaffen werden. In diesem Zusammenhang richtet sich das Interesse auf einfache Robotersysteme als Unterrichtsmedium und als Unterrichtsgegenstand. Vorgestellt werden die Ergebnisse einer Fallstudie, die exemplarisch untersucht, inwieweit ein Rob...
متن کامل"two novel mutations and predominant 35delg mutation in the connexin 26 gene (gjb2) in iranian populations"
mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...
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ژورنال
عنوان ژورنال: Monatsschrift Kinderheilkunde
سال: 2005
ISSN: 0026-9298,1433-0474
DOI: 10.1007/s00112-005-1168-4