X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

Article Abstract:

X-linked dyskeratosis congenita, a rare inherited bone-marrow failure syndrome in which 80%+ of the patients die, is in the main the result of DKC1 gene missense mutations. The X-linked form of the disease is known to be caused by mutations in DKC1, which encodes a 514-amino-acid protein homologous to a Saccharomyces cerevisiae protein and a rat protein. The DKC1 gene is made up of 15 exons and has been screened for mutation in genomic DNA. Mutations included 11 different single-nucleotide substitutions resulting in 10 missense mutations.

Germany, India, United Arab Emirates, Abnormalities, Genetic aspects, Bone marrow, Epithelial cells, Genetic disorders, Dyskeratosis congenita

---

Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder

Article Abstract:

A study to show that a functional serotonin transporter polymorphism, HTTLPR, which alters the risk of disease as well as brain morphometry and function, is functionally triallelic is presented. The HTTLPR L(sub A) L(sub A) genotype exerts a moderate (1.8-fold) effect on risk of OCD, which crystallizes the evidence that the HTT gene has a role in obsessive-compulsive disorder.

Health aspects, Care and treatment, Usage, Obsessive-compulsive disorder, Obsessive compulsive disorder, Nucleotide sequencing, Serotonin agents

---

Genetic evidence for the Proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes

Article Abstract:

Genetic evidence supporting the hypothesis that a Proto-Austronesian homeland existed in Asia is discussed based on the study of mtDNA and nuclear DNA variation in aboriginal tribes of Taiwan. The aboriginal Taiwanese seem to have originated in central or south China, but to have been isolated from other Asian groups in recent times.

Taiwan, China, Asia, Statistical Data Included, Emigration and immigration, Prehistoric peoples, Mitochondrial DNA, Austronesian languages, Population genetics, Indigenous peoples, Oceania, Ethnology, Cultural anthropology

Similar abstracts:

• Abstracts: Synaptic function is impaired but not eliminated in C. elegans mutants lacking synaptotagmin. MIX-1: an essential component of the C. elegans mitotic machinery executes x chromosome dosage compensation
• Abstracts: Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. A common mechanism for microtubule destabilizers-M type kinesins stabilizes curling of the protofilament using the class-specific neck and loops
• Abstracts: Production of engineered killer peptide in Nicotiana benthamiana by using a Potato virus X expression system. Involvement of quinolinate phosphoribosyl transferase in promotion of potato growth by a Burkholderia strain
• Abstracts: Linkage map of Escherichia coli K-12, edition 10: the physical map. Production of poly(3-hydroxybutyrate) be fed-batch culture of filamentation-suppressed recombinant Escherichia coli
• Abstracts: Nontypeable Haemophilus influenzae: pathogenesis and prevention. Plant pathogen forensics: Capabilities, needs, and recommendations

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.