title: New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval.
abstract: Recently some of us cloned a new probe RN1 (DXS369), which appears a close marker for the fragile X locus (FRAXA) [Oostra et al.: Genomics 1990]. We present here new evidence for its physical and genetic mapping in the DXS98--FRAXA interval. We used 2 different somatic cell hybrid lines with breakpoints in the Xq27-q28 region: L10B Rea and PeCHN, and we established the order: (DXS105, DXS98)-L10B Rea-DXS369-PeCHN- (DXS304, DXS52). We detected an additional TaqI RFLP at the DXS369 locus which increases its informativeness up to 57%. Two point linkage analysis in a large set of families gave high lod scores for the FRAXA-DXS369 linkage (z(theta) = 10.1 at theta = 0.044) and for DXS369-DXS304, a marker distal to FRAXA (z = 19.2 at theta = 0.070). By multipoint analyses we established the localization of DXS369 in the DXS98-FRAXA interval. DXS369 is a much closer proximal marker for FRAXA than DXS105 or DXS98 and any new probe mapping between the breakpoints in L10B Rea and PeCHN will be of potential interest as a marker for FRAXA.
authors.affiliation: Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de Biologie Moléculaire et de Génie Génétique de l'INSERM, Faculté de Médecine, Strasbourg, France.
authors.forename: I
authors.initials: I
authors.lastname: Oberlé
authors.forename: A
authors.initials: A
authors.lastname: Vincent
authors.forename: N
authors.initials: N
authors.lastname: Abbadi
authors.forename: F
authors.initials: F
authors.lastname: Rousseau
authors.forename: P E
authors.initials: PE
authors.lastname: Hupkes
authors.forename: M C
authors.initials: MC
authors.lastname: Hors-Cayla
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
mesh_terms: D000328:Adult; D000818:Animals; D002874:Chromosome Mapping; D006224:Cricetinae; D003412:Cricetulus; D015342:DNA Probes / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008126:Lod Score; D008297:Male; D008594:Menopause, Premature / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D000091402:Prohibitins; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*; D014998:Y Chromosome / Q000648:ultrastructure*
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; C000717331:PHB2 protein, human; D000091402:Prohibitins; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases