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Abstract In some Palestinian communities, the preva-lence of inherited prelingual deafness is among the high-
 

Summary: Abstract In some Palestinian communities, the preva-
lence of inherited prelingual deafness is among the high-
est in the world. As an initial step towards understanding
the genetic causes of hearing loss in the Palestinian popu-
lation, 48 independently ascertained probands with non-
syndromic hearing loss were evaluated for mutations in
the connexin 26 gene. Of the 48 deaf probands, 11 (23%)
were homozygous or compound heterozygous for muta-
tions in GJB2. Five different mutations were identified:
ivs1(+1) GA, 35delG, 167delT, T229C, 235delC. Nine
deaf probands were homozygous and only two compound
heterozygous. Among 400 hearing Palestinian controls,
one carrier was observed (for 167delT). We show that
GJB2 ivs1(+1) GA disrupts splicing, yielding no de-
tectable message. Linkage disequilibrium analysis sug-
gests, in the Palestinian and Israeli populations, a com-
mon origin of the 35delG mutation, which is worldwide,
and of 167delT, which appears specific to Israeli Ashke-
nazi and Palestinian populations. A high prevalence of
deafness, high frequency of homozygosity rather than

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine