PMID- 12772454
OWN - NLM
STAT- MEDLINE
DCOM- 20040910
LR  - 20221207
IS  - 0412-3948 (Print)
IS  - 0412-3948 (Linking)
VI  - 37
IP  - 5
DP  - 2002 Oct
TI  - [Mutation analysis of Cx26 gene in Chinese hereditary nonsyndromic deafness 
      sufferers].
PG  - 348-51
AB  - OBJECTIVE: To analyze the mutations in the code region of Cx26 gene in Chinese 
      hereditary nonsyndromic hearing impairment (NSHI) sufferers. METHODS: 
      Thirty-three cases (29 cases in the families of 8 students who were picked out 
      from the Deafness and Muteness School of Tianjin, 2 cases as control and 2 normal 
      cases of genetic counseling) were included in this study. The blood samples were 
      obtained to distill the DNA templates. Using polymerase chain reaction (PCR), the 
      code region of Cx26 gene was amplified. The mutations were screened by 
      restriction endonucleases fingerprinting-single strand conformation polymorphism 
      (REF-SSCP). Afterwards we inspected the polymorphous changes or mutations of 
      these segments with DNA sequence. RESULTS: There were 30 cases with the 
      nucleotide changes in the Cx26 code region. The rate was 90.9% (30/33). Eight 
      kinds of mutations were found, 79G-->A, 109G-->A, 161A-->T, 235delC, 240G-->A, 
      341A-->G, 571T-->C and 608T-->C. 161A-->T, 240G-->A and 571T-->C were detected 
      primarily. There were 3 cases with 235delC in 22 deafness sufferers and the rate 
      was 13.64% (3/22). CONCLUSIONS: The 235delC of Cx26 gene is the main mutation in 
      Chinese NSHI sufferers, and in NSHI cases many polymorphous changes exist.
FAU - Xu, Yuefan
AU  - Xu Y
AD  - Women's Health Institute of Tianjin, Tianjin 300204, China.
FAU - Ren, Lufeng
AU  - Ren L
FAU - Song, Wenqin
AU  - Song W
FAU - Zhang, Changjun
AU  - Zhang C
FAU - Ma, Yuanxu
AU  - Ma Y
FAU - Li, Jinchun
AU  - Li J
FAU - Zhang, Yanni
AU  - Zhang Y
LA  - chi
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Er Bi Yan Hou Ke Za Zhi
JT  - Zhonghua er bi yan hou ke za zhi
JID - 16210350R
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 127120-53-0 (Connexin 26)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Asian People/genetics
MH  - Child
MH  - China/epidemiology
MH  - Connexin 26
MH  - Connexins/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Hearing Loss, Sensorineural/epidemiology/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Pedigree
EDAT- 2003/05/30 05:00
MHDA- 2004/09/11 05:00
CRDT- 2003/05/30 05:00
PHST- 2003/05/30 05:00 [pubmed]
PHST- 2004/09/11 05:00 [medline]
PHST- 2003/05/30 05:00 [entrez]
PST - ppublish
SO  - Zhonghua Er Bi Yan Hou Ke Za Zhi. 2002 Oct;37(5):348-51.