Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23

Article Abstract:

Fetal hemoglobin production (Hb F) and fetal cell (FC) levels in adults show considerable variation. They are influenced by several genetic variants. An Asian Indian kindred with persons with heterocellular hereditary persistence of HbF (HPFH) associated with beta thalassemia has been studied and the region of a trans-acting locus that controls HbF and FC production mapped to chromosome 6q23. Haplotype analysis has led to reevaluation of genealogy and to identification of additional relationships in the kindred. Tight linkage of the quantitative-trait locus to the anonymous markers D6S976 and D6S270 exists.

Greece, Fetal hemoglobin, Thalassemia

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A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

Article Abstract:

Autosomal dominant "pure" hereditary spastic paraplegia (ADPHSP) is discussed relative to mapping to chromosome 12q13 and evidence for greater genetic heterogeneity. This disease is characterized clinically by slowly progressive lower-limb spasticity. A large family with ADPHSP has undergone a genomewide linkage screen, having had the four already-known loci excluded. Another ADPHSP family has been described, and in that family linkage to all five known ADPHSP loci has been excluded

Netherlands, Statistical Data Included, Nervous system, Nerve degeneration, Spasticity, Paraplegia

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Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage

Article Abstract:

An osteoarthritis-susceptibility locus, likely a female-specific susceptibility gene for idiopathic osteoarthritis, has been established on chromosome 11q, having been detected by linkage. A two-stage genomewide scan for osteroarthiris-susceptibility loci was carried out using 481 families. Each family had at least one affected sibling pair.

United States, Ireland, Osteoarthritis

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