Literature DB >> 2893188

Genetic differences between cystic fibrosis with and without meconium ileus.

E Mornet1, B Simon-Bouy, J L Serre, X Estivill, M Farrall, R Williamson, J Boue, A Boue.   

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.

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Mesh:

Year:  1988        PMID: 2893188     DOI: 10.1016/s0140-6736(88)91180-4

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  17 in total

Review 1.  Cystic fibrosis, pathophysiological and clinical aspects.

Authors:  H J Neijens; M Sinaasappel; R de Groot; J C de Jongste; S E Overbeek
Journal:  Eur J Pediatr       Date:  1990-08       Impact factor: 3.183

2.  Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Authors: 
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics.

Authors:  J L Serre; B Simon-Bouy; E Mornet; B Jaume-Roig; A Balassopoulou; M Schwartz; A Taillandier; J Boué; A Boué
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

4.  Cystic fibrosis: typing 89 German families with linked DNA probes.

Authors:  J Weber; C Aulehla-Scholz; R Kaiser; A Eigel; M Neugebauer; J Horst; K Olek
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

5.  Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

Authors:  G R Cutting; S E Antonarakis; K H Buetow; L M Kasch; B J Rosenstein; H H Kazazian
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

6.  Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population.

Authors:  M Vidaud; A Kitzis; C Ferec; D Bozon; V Dumur; G Giraud; F David; O Pascal; M Auvinet; Y Morel
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

Review 7.  The molecular genetics of complex inherited diseases.

Authors:  R Williamson
Journal:  Br J Cancer Suppl       Date:  1988-12

8.  Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms at two DNA markers, XV-2c and KM. 19, in North African families.

Authors:  G Lucotte; E Barré; F David
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

9.  The origin of Eastern European Jews revealed by autosomal, sex chromosomal and mtDNA polymorphisms.

Authors:  Avshalom Zoossmann-Diskin
Journal:  Biol Direct       Date:  2010-10-06       Impact factor: 4.540

Review 10.  Contemporary management of meconium ileus.

Authors:  F J Rescorla; J L Grosfeld
Journal:  World J Surg       Date:  1993 May-Jun       Impact factor: 3.352

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