Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders
Autore:
Pesch, K; Tomiuk, J; Broghammer, M; Zrenner, E; Apfelstedt-Sylla, E; Jacobi, FK; Wissinger, B; Pusch, CM;
Indirizzi:
Univ Tubingen, Augenklin, Mol Genet Labor, D-72076 Tubingen, Germany Univ Tubingen Tubingen Germany D-72076 Labor, D-72076 Tubingen, Germany Inst Anthropol & Humangenet, Abt Allgemeine Humangenet, D-72074 Tubingen, Germany Inst Anthropol & Humangenet Tubingen Germany D-72074 4 Tubingen, Germany Univ Giessen, Augenklin, D-35392 Giessen, Germany Univ Giessen Giessen Germany D-35392 Augenklin, D-35392 Giessen, Germany Univ Tubingen, Augenklin, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany Univ Tubingen Tubingen Germany D-72076 halmol, D-72076 Tubingen, Germany
Titolo Testata:
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
fascicolo: 1, volume: 8, anno: 2001,
pagine: 53 - 58
SICI:
1107-3756(200107)8:1<53:CPMMTR>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
STATIONARY NIGHT BLINDNESS; COMPLEX DISEASES; DNA-SEQUENCES; X-CHROMOSOME; GENE; MUTATIONS; LOCALIZATION; REGION; REPEATS; FAMILY;
Keywords:
monogenic disorder; mutation; recombination; allelic variation; individual haplotype analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Pusch, CM Univ Tubingen, Augenklin, Mol Genet Labor, Morgenstelle 15, D-72076 Tubingen, Germany Univ Tubingen Morgenstelle 15 Tubingen Germany D-72076 Germany
Citazione:
K. Pesch et al., "Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders", INT J MOL M, 8(1), 2001, pp. 53-58

Abstract

Traditional linkage analysis in large families is the most promising approach for mapping disease genes of monogenic heritable disorders when the number of informative meioses is sufficient. With rare diseases, however, the low availability of informative pedigrees poses a significant limitation. As an adjunct to family linkage methods, association studies based on the investigation of individual haplotypes from a number of unrelated patients (i.e. linkage disequilibrium analysis) have recently been employed in mappinghereditary disease loci. However, such haplotype analysis is hampered by anumber of effects that influence statistical evaluation, e.g. i) population history and size, ii) allele and haplotype frequencies in the respective population(s), iii) heterogeneous mutation and natural selection processes,and iv) small sample sizes of patient groups. The purpose of the present study was to determine the utility and limitations of haplotype-based genetic mapping in estimating the location of the NYX gene, which has recently been identified as the causative gene for a rare inherited retinal disorder known as the complete type of X-linked congenital stationary night blindness(CSNB1). For this purpose we recapitulated haplotypes and tested for linkage disequilibrium in 20 unrelated male CSNB1 patients from three European populations and 44 healthy individuals. All subjects were genotyped for 17 polymorphic microsatellite loci covering the Xp11.4 region with an average marker density of similar to0.29 cM. We found that a precise model to describe mutations at loci that erroneously break up linkage is highly required, and that the case population must match the respective disease model.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 14:14:47