Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense

Article Abstract:

Novel ITGB4 mutations in variants of epidermolysis bullosa with pyloric atresia (EB-PA), which is an autosomal recessive genodermatosis are discussed from the point of view of whether they are missense or nonsense mutations. Frequently this disorder is lethal, and ITGB4 mutations are the basis for it, but missense mutations may lead to nonlethal variants, based on a study of five families, two with lethal and three with nonlethal types of the disorder.

Statistical Data Included, Abnormalities, Skin, Esophagus, Esophageal atresia, Gastrointestinal system, Skin abnormalities, Digestive system abnormalities, Epidermolysis bullosa

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FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males

Article Abstract:

A study of single sperm from four fragile-X premutation males is discussed. The study has shown that the FMR1 CGG repeat is far more unstable in the germline than in somatic cells. Also cis or trans factors may have additional influence on repeat instability. The repeats in sperm from the 75- and 78-repeat males had quite different ranges of size and AGG interruption in their somatic cells.

Fragile X syndrome, Developmental disabilities, Lymphocytes, Spermatozoa, Sperm

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Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution

Article Abstract:

Experiments using both male and female germ cells demonstrate that mutation occurrence is more complicated than the theory proffered by male-driven evolution. The methylation status of FGFR3 and human factor VIII genes was discovered to be equally and significantly high for both genders. Further research is needed to determine higher mutation rates in males.

Methylation

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