PMID- 11386851
OWN - NLM
STAT- MEDLINE
DCOM- 20010830
LR  - 20201113
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 73
IP  - 2
DP  - 2001 Jun
TI  - Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations 
      and frequencies among Ashkenazi Jews.
PG  - 160-3
AB  - Mutations in the gap junction beta2 (GJB2) gene, Connexin 26 (Cx26), cause 
      nonsyndromic sensorineural recessive deafness (NSRD). Two frameshift mutations, 
      167delT and 35delG, are the most frequent Cx26 lesions causing NSRD. The 35delG 
      mutation is panethnic, while the 167delT lesion occurs almost exclusively in the 
      Ashkenazi Jewish population at a carrier frequency of 2 to 4%. To facilitate 
      carrier detection, a simple nonradioactive allele-specific oligonucleotide (ASO) 
      hybridization assay was developed for the 167delT and 35delG mutations. Screening 
      of 1012 anonymous Ashkenazi Jewish individuals from the New York Metropolitan 
      area revealed carrier frequencies for 167delT and 35delG of 3.96% (95% CI: 
      2.75-5.15%) and 0.69% (95% CI: 0.18-1.20%), respectively. This sensitive, 
      specific, and relatively inexpensive method can reliably identify affected 
      newborns and patients with NSRD as well as facilitate carrier screening for 
      Connexin 26 deafness in the Ashkenazi Jewish community.
CI  - Copyright 2001 Academic Press.
FAU - Dong, J
AU  - Dong J
AD  - Department of Human Genetics, Mount Sinai School of Medicine of New York 
      University, New York, New York 10029, USA.
FAU - Katz, D R
AU  - Katz DR
FAU - Eng, C M
AU  - Eng CM
FAU - Kornreich, R
AU  - Kornreich R
FAU - Desnick, R J
AU  - Desnick RJ
LA  - eng
GR  - 5 M01 RR00071/RR/NCRR NIH HHS/United States
GR  - 5 P30 HD28822/HD/NICHD NIH HHS/United States
GR  - 5 R37 DK34045/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 0 (Oligonucleotides)
RN  - 127120-53-0 (Connexin 26)
RN  - 9007-49-2 (DNA)
RN  - NQ1SX9LNAU (Digoxigenin)
SB  - IM
MH  - Connexin 26
MH  - Connexins/*genetics
MH  - DNA/genetics
MH  - Digoxigenin
MH  - Gene Frequency
MH  - Jews/*genetics
MH  - Mutation
MH  - Nucleic Acid Hybridization/methods
MH  - Oligonucleotides/genetics
MH  - Polymerase Chain Reaction
MH  - *Sequence Deletion
EDAT- 2001/06/02 10:00
MHDA- 2001/08/31 10:01
CRDT- 2001/06/02 10:00
PHST- 2001/06/02 10:00 [pubmed]
PHST- 2001/08/31 10:01 [medline]
PHST- 2001/06/02 10:00 [entrez]
AID - S1096-7192(01)93182-8 [pii]
AID - 10.1006/mgme.2001.3182 [doi]
PST - ppublish
SO  - Mol Genet Metab. 2001 Jun;73(2):160-3. doi: 10.1006/mgme.2001.3182.