Abstract
41 families with cystic fibrosis, (CF) were tested for restriction fragment length polymorphisms (RFLPs) detected by four DNA probes all of which are tightly linked to the CF gene. 17 of the families had an affected child with, and 24 had one without, meconium ileus. In all cases, CF segregates with these gene probes; however, those with and those without meconium ileus differed in haplotype for CF chromosomes with respect to pJ3.11, which suggests that because of multiallelism (different mutations of the same locus) some CF patients present with meconium ileus and others do not.
Original language | English |
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Pages (from-to) | 376-378 |
Number of pages | 3 |
Journal | The Lancet |
Volume | 331 |
Issue number | 8582 |
DOIs | |
Publication status | Published - 20 Feb 1988 |
Externally published | Yes |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS. / Mornet, E.; Serre, J. L.; Farrall, M.; Boue, J.; Simon-Bouy, B.; Estivill, Xavier P.; Williamson, R.; Boue, A.
In: The Lancet, Vol. 331, No. 8582, 20.02.1988, p. 376-378.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS
AU - Mornet, E.
AU - Serre, J. L.
AU - Farrall, M.
AU - Boue, J.
AU - Simon-Bouy, B.
AU - Estivill, Xavier P.
AU - Williamson, R.
AU - Boue, A.
PY - 1988/2/20
Y1 - 1988/2/20
N2 - 41 families with cystic fibrosis, (CF) were tested for restriction fragment length polymorphisms (RFLPs) detected by four DNA probes all of which are tightly linked to the CF gene. 17 of the families had an affected child with, and 24 had one without, meconium ileus. In all cases, CF segregates with these gene probes; however, those with and those without meconium ileus differed in haplotype for CF chromosomes with respect to pJ3.11, which suggests that because of multiallelism (different mutations of the same locus) some CF patients present with meconium ileus and others do not.
AB - 41 families with cystic fibrosis, (CF) were tested for restriction fragment length polymorphisms (RFLPs) detected by four DNA probes all of which are tightly linked to the CF gene. 17 of the families had an affected child with, and 24 had one without, meconium ileus. In all cases, CF segregates with these gene probes; however, those with and those without meconium ileus differed in haplotype for CF chromosomes with respect to pJ3.11, which suggests that because of multiallelism (different mutations of the same locus) some CF patients present with meconium ileus and others do not.
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UR - http://www.scopus.com/inward/citedby.url?scp=0023858285&partnerID=8YFLogxK
U2 - 10.1016/S0140-6736(88)91180-4
DO - 10.1016/S0140-6736(88)91180-4
M3 - Article
C2 - 2893188
AN - SCOPUS:0023858285
VL - 331
SP - 376
EP - 378
JO - The Lancet
JF - The Lancet
SN - 0140-6736
IS - 8582
ER -