Περίληψη:
The N1303K mutation was identified in the second nucleotide binding fold
of the cystic fibrosis (CF) gene last year. We have gathered data from
laboratories throughout Europe and the United States of America in order
to estimate its frequency and to attempt to characterise the clinical
manifestations of this mutation. N1303K, identified on 216 of nearly
15000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
The frequency of the N1303K allele varies significantly between
countries and ethnic groups, being more common in Southern than in
Northern Europe. This variation is independent of the DELTA-F508 allele.
It was not found on UK Asian, American Black or Australian chromosomes.
N1303K is associated with four different linked marker haplotypes for
the polymorphic markers XV-2c, KM.19 and pMP6d-9. Ten patients are
homozygous for this mutation, whereas 106 of the remainder carry one of
12 known CF mutations in the other CF allele. We classify N1303K as a
“severe” mutation with respect to the pancreas, but can find no
correlation between this mutation, in either the homozygous or
heterozygous state, and the severity of lung disease.
Συγγραφείς:
OSBORNE, L
SANTIS, G
SCHWARZ, M
KLINGER, K
DORK, T and
MCINTOSH, I
SCHWARTZ, M
NUNES, V
MACEK, M
REISS, J and
HIGHSMITH, WE
MCMAHON, R
NOVELLI, G
MALIK, N
BURGER, J
and ANVRET, M
WALLACE, A
WILLIAMS, C
MATHEW, C
ROZEN, R
and GRAHAM, C
GASPARINI, P
BAL, J
CASSIMAN, JJ and
BALASSOPOULOU, A
DAVIDOW, L
RASKIN, S
KALAYDJIEVA, L and
KEREM, B
RICHARDS, S
SIMONBOUY, B
SUPER, M
WULBRAND, U
and KESTON, M
ESTIVILL, X
VAVROVA, V
FRIEDMAN, KJ and
BARTON, D
DALLAPICCOLA, B
STUHRMANN, M
BEARDS, F
HILL,
AJM
PIGNATTI, PF
CUPPENS, H
ANGELICHEVA, D
TUMMLER, B
and BROCK, DJH
CASALS, T
MACEK, M
SCHMIDTKE, J
MAGEE, AC
and BONIZZATO, A
DEBOECK, C
KUFFARDJIEVA, A
HODSON, M and
KNIGHT, RA
