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At least 91 records · Page 5Linked to original sources
PubMed1987

Location of genes on chromosome arms in the Anopheles gambiae group of species and their correlation to linkage data for other anopheline mosquitoes.

The use of paracentric inversions as genetic markers in the Anopheles gambiae group of mosquitoes is described. The gene for dieldrin resistance is assigned to chromosome 2 which in turn is correlated to the previous assignment of the gene to linkage group II. The locus of the enzyme phosphoglucomutase 2 (Pgm 2) is similarly assigned to chromosome 2 and evidence is presented for possible linkage between Pgm 2 and dieldrin resistance. There was no linkage or correlation of chromosome 2 and loci of the enzymes superoxide dismutase (Sod) and octanol dehydrogenase (Odh). These genes are therefore assumed to be on chromosome 3 (linkage group III). Evidence that such gene linkage group/chromosome correlations may extend to other species for which chromosome maps and homologies have been worked out is discussed.

Alcohol Oxidoreductases↗
PubMed1992

Familial Mediterranean fever: analysis of inheritance and current linkage data.

Familial Mediterranean fever (FMF) is a genetic disorder characterized by recurrent attacks of fever and inflammation of serosal surfaces. Unlike many mendelian disorders, the mode of transmission has been subject to some controversy as segregation analysis studies have always demonstrated fewer "observed" than "expected" affected individuals. Despite efforts to map the gene causing FMF, no definite linkage has been yet identified. This review analyses the epidemiologic and genetic characteristics in order to evaluate critically the inheritance of the disease and provide a perspective on the current biochemical and molecular genetic studies whose aim is to locate the gene for this disease.

Amyloidosis↗
PubMed1990

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.1. The other chromosome 1 markers typed (MUCI, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = less than -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.

Chromosomes, Human, Pair 1↗
PubMed1991

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the alpha-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (zeta = 20.61, theta = 0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.

Alleles↗