Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene

Article Abstract:

Studies of Finnish subjects show that the autosomal recessive disorder congenital lactase deficiency is linked to a single major mutation. Haplotype analysis and genealogical research reveal the locus of the disease to be near to but separate from the gene lactase-phlorizin hydrolase, which has been ruled out as a causative factor.

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A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram Syndrome 2

Article Abstract:

A study done to see whether homozygous mutation in a novel zinc-finger protein, ERIS is responsible for Wolfram Syndrome 2 (WFS2) was carried out. Results showed a mutation causative for WFS2 in a novel, highly conserved zinc-finger gene, ZCD2 is located within the critical region.

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Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

Article Abstract:

Two new mutations are identified among Saudis who are known for high prevalence of lactase persistence (LP). It is found to support the convergent evolution of LP in diverse populations, reflecting different histories of adaptation to milk culture.

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