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A second generation human haplotype map of over 3.1 million SNPs
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
It is reported that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy.
A survey of genetic and epigenetic variation affecting human gene expression.
A survey of human genes that demonstrate allelic differences in gene expression, reflecting the presence of putative allele-specific cis-acting factors of either genetic or epigenetic nature is reported.
Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.
- A. Desautels, G. Turecki, J. Montplaisir, A. Sequeira, A. Verner, G. Rouleau
- BiologyAmerican journal of human genetics
- 1 December 2001
These findings represent the first mapping of a locus conferring susceptibility to RLS, and positioning the RLS-predisposing gene in a 14.71-cM region between D 12S1044 and D12S78 is refined.
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype
The MUT gene was sequenced in 160 patients with MMA to better elucidate the spectrum of mutations that cause MMA, and some frequently identified mutations were not population‐specific and were identified in patients of various ethnic backgrounds.
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Functional expression of human TMEM76 and the mouse ortholog demonstrates that it is the gene that encodes the lysosomal N-acetyltransferase and suggests that this enzyme belongs to a new structural class of proteins that transport the activated acetyl residues across the cell membrane.
Susceptibility to leprosy is associated with PARK2 and PACRG
Variants in the regulatory region shared by PARK2 and PACRG act as common risk factors for leprosy by using a systematic association scan of the chromosomal interval most likely to harbour this leproSy susceptibility locus.
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
Results indicate that the underlying defect in patients with fatal mitochondrial disease manifesting soon after birth is under the control of a nuclear gene, the locus of which is on chromosome 2.
Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population
A genome-wide search for loci controlling susceptibility to leprosy per se is reported here on in a panel of 86 families including 205 siblings affected with leproSy from Southern Vietnam, finding significant evidence for a susceptibility gene on chromosome region 6q25.
Genome-wide scan in Portuguese Island families identifies 5q31–5q35 as a susceptibility locus for schizophrenia and psychosis
Strong and consistent evidence is provided for this genomic region on 5q31–5q35 as a susceptibility locus for schizophrenia, suggesting that this locus may be responsible for the psychotic symptoms observed in both diseases.