ABSTRACT
A panel of 399 individuals from 24 kindreds with facioscapulohumeral muscular dystrophy (FSHD) has been established for genetic linkage studies. A previous suggestion of linkage on the distal long arm of chromosome 14 to the locus (IGHG) for the constant region of the heavy chain of IgG immunoglobulin was tested from serum Gm allotypes and from DNA analysis using an IGHG DNA probe. After applying an age-dependent weighting for presently unaffected but at risk individuals close linkage between the IGHG and FSHD loci was excluded.
Subject(s)
Chromosomes, Human, Pair 14 , Facial Muscles/physiopathology , Muscular Dystrophies/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Genetic Linkage , Humans , Humerus/physiopathology , Infant , Male , Scapula/physiopathologyABSTRACT
Linkage is reported between the expressed hypervariable gene locus PUM and the gene coding for the Duffy blood group FY, with a maximum lod score of 4 at theta = 0. Linkage can be excluded between PUM and PEPC at a distance of 10 cM.
Subject(s)
Blood Group Antigens/genetics , Duffy Blood-Group System/genetics , Genes, Immunoglobulin , Genetic Linkage , Immunoglobulin Variable Region/genetics , Lectins/genetics , Mucins/genetics , Genes , Humans , Lod Score , Peanut AgglutininSubject(s)
Blood Proteins/genetics , Enzymes/genetics , Gene Frequency , Polymorphism, Genetic , Alleles , Enzymes/blood , Genetic Markers , Haplotypes , Humans , Myanmar , PhenotypeABSTRACT
Data are presented on serum and red cell polymorphisms in five ethnic groups in Burma, the Chin, Naga, Kachin, Shan and Kayah. Gene frequencies are discussed in relation to the present geographical locations of the groups and their probable history of migration.
Subject(s)
Blood Group Antigens/genetics , Enzymes/genetics , Gene Frequency , Polymorphism, Genetic , Racial Groups/genetics , Alleles , Humans , Transients and Migrants , United KingdomABSTRACT
A family with two nucleoside phosphorylase-deficient patients has been scored for the segregation of NP0 and the variable region 14p. The mose likely 14p:NP recombination fraction is 0.15 in males and 0.30 in females. There is no family data to assign the Pi:Gm linkage group to chromosome 14, but as immunoglobulin heavy chain has been assigned to this chromosome by somatic cell methods the most likely gene order is 14p:NP:Pi:Gm with Pi in 14q2 and Gm in 14(q23 leads to q32), but the order 14p:NP:Gm:Pi with Pi in 14(q24 leads to qter) and Gm in 14(q22 leads to q24) is not excluded. The available linkage data between biochemical markers on acrocentric chromosomes and their short arm markers suggest that there may be more recombination towards the ends of human chromosomes whether or not those ends carry centromeres.
Subject(s)
Chromosomes, Human, 13-15 , Phosphotransferases/deficiency , Child , Female , Genotype , Humans , Lod Score , Male , Nucleosides/deficiency , Pedigree , Recombination, GeneticABSTRACT
Linkage between the Scianna blood group and the Rhesus blood group has been confirmed. Families demonstrating recombinants between U M P K and Sc suggest that U M P K lies between Sc and PGM1.
Subject(s)
Blood Group Antigens/genetics , Chromosomes, Human, 1-3 , Nucleoside-Phosphate Kinase/genetics , Phosphotransferases/genetics , Chromosome Mapping , Female , Genetic Linkage , Humans , Male , Recombination, Genetic , Rh-Hr Blood-Group System/genetics , Uridine MonophosphateABSTRACT
An investigation of 1088 unrelated British people to look for an association between alleles of the Rhesus blood group system and those of the Gm system gave the result expected for totally independent loci.
Subject(s)
Blood Group Antigens , Genetic Linkage , Immunoglobulin G/genetics , Rh-Hr Blood-Group System , Alleles , Humans , United KingdomABSTRACT
A family which segregates simultaneously for PGD, elliptocytosis, Rh, alphaFUC and PGM1 contains a recombinant suggesting that the loci lie in this order.
Subject(s)
Elliptocytosis, Hereditary/genetics , Genetic Linkage , Chromosome Mapping , Female , Genotype , Humans , Male , Pedigree , Rh-Hr Blood-Group SystemABSTRACT
Family studies show that alphaFUC is closely linked to Rh and confirm that the locus for alpha-L-fucosidase is on chromosome 1.
Subject(s)
Disaccharidases/metabolism , Genetic Linkage , Rh-Hr Blood-Group System , alpha-L-Fucosidase/metabolism , Alleles , Chromosome Mapping , Female , Heterozygote , Humans , Male , Phenotype , Polymorphism, GeneticSubject(s)
Genetic Linkage , Immunoglobulin G , alpha 1-Antitrypsin , Chromosome Mapping , Female , Humans , Male , Recombination, GeneticSubject(s)
Chromosome Aberrations , Chromosomes, Human, 1-3 , Translocation, Genetic , Chromosome Mapping , Female , Humans , Male , Pedigree , PhenotypeSubject(s)
Chromosome Aberrations , Chromosomes, Human, 1-3 , Translocation, Genetic , Chromosome Mapping , Female , Genes , Humans , MNSs Blood-Group System , Male , Pedigree , Phenotype , alpha 1-AntitrypsinSubject(s)
Immunoglobulin Allotypes , Immunoglobulin G , alpha 1-Antitrypsin , Chromosome Mapping , Chromosomes , Female , Genetic Linkage , Humans , Male , Recombination, Genetic , Sex FactorsABSTRACT
Data from seven families carrying rearrangements and variants of chromosome 2 have been analysed in relation to the assignment of ACP1 and MNSs. The data are consistent with the regional assignment of ACP1 to 2p23, but not with that of MNSs to band 2q14.
