Abstracts

Biological sciences

Gene localization for aculeiform cataract, on chromosome 2q33-35

Article Abstract:

A gene for aculeiform cataract has been localized to a 7 cM interval on chromosome 2q33-35, near the gamma-crystallin locus. Three unrelated families affected with the phenotype, one from Macedonia and two from Switzerland, participated in the study. Genotyping and linkage analysis was conducted for 19 affected individuals, 17 unaffected family members, and seven spouses. Thirteen candidate loci were screened.

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Mutations in CABP4, the gene encoding the [Ca.sup.2}-binding protein 4, cause autosomal recessive night blindness

Article Abstract:

A candidate-gene approach is used to identify mutations that cause congenital stationary night blindness (CSNB). Studies on two families with CSNB reveal that mutations in CABP4, the gene encoding the calcium-binding protein 4, reduce the transcript levels to 30% to 40% of those in controls, which suggests that the reduced amount of CABP4 is the reason for the signaling defect in these patients.

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Mutations in cardiac T-Box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

Article Abstract:

The article describes the T-box family transcription factor gene TBX20 that acts in a conserved regulatory network, guiding heart formation and patterning in diverse species.

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