Although there have been numerous reports from around the world of mutations in the gene
of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator) …

Human disease genes show enormous variation in their allelic spectra; that is, in the number
and population frequency of the disease-predisposing alleles at the loci. For some genes …

It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular
genetic results, and to integrate them in the diagnostic process. The limitations of genotyping …

Human Evolutionary Genetics is a groundbreaking text which for the first time brings
together molecular genetics and genomics to the study of the origins and movements of …

Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability
syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer …

We have identified a Y-chromosomal lineage with several unusual features. It was found in
16 populations throughout a large region of Asia, stretching from the Pacific to the Caspian …

Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene
was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene …

A mutant allele of the β-chemokine receptor gene CCR5 bearing a 32-basepair (bp) deletion
(denoted Δ ccr5) which prevents cell invasion by the primary transmitting strain of HIV-1 has …

Haemochromatosis is a genetic disease associated with progressive iron overload, and is
common among populations of northern European origin. HLA-H is a recently reported …

The CCR5-Δ32 deletion obliterates the CCR5 chemokine and the human immunodeficiency
virus (HIV)–1 coreceptor on lymphoid cells, leading to strong resistance against HIV-1 …