TY - JOUR
T1 - High incidence of deafness from three frequent connexin 26 mutations in an isolated community
AU - Zlotogora, Joël
AU - Carasquillo, Minerva
AU - Barges, Saleh
AU - Shalev, Stavit A.
AU - Hujerat, Yasir
AU - Chakravarti, Aravinda
PY - 2006/3
Y1 - 2006/3
N2 - In a small village founded by few ancestors, three mutations in GJB2, the gene for connexin 26, are responsible for the high prevalence of deafness. A total of 15% of healthy individuals from a random sample were carriers of either 35Gdel (7.8%), W77R (2.4%), or V37I (4.8%). The three mutations appeared in the village approximately 100-150 years ago. The question of why three distinct mutations of similar age are observed at high frequency within a genetic isolate is discussed.
AB - In a small village founded by few ancestors, three mutations in GJB2, the gene for connexin 26, are responsible for the high prevalence of deafness. A total of 15% of healthy individuals from a random sample were carriers of either 35Gdel (7.8%), W77R (2.4%), or V37I (4.8%). The three mutations appeared in the village approximately 100-150 years ago. The question of why three distinct mutations of similar age are observed at high frequency within a genetic isolate is discussed.
UR - http://www.scopus.com/inward/record.url?scp=33645366737&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33645366737&partnerID=8YFLogxK
U2 - 10.1089/gte.2006.10.40
DO - 10.1089/gte.2006.10.40
M3 - Article
C2 - 16545002
AN - SCOPUS:33645366737
SN - 1090-6576
VL - 10
SP - 40
EP - 43
JO - Genetic Testing
JF - Genetic Testing
IS - 1
ER -