Genomic imprinting and its clinical implications

Article Abstract:

Individuals may have different genetic disorders depending on whether the genetic abnormality was inherited on a chromosome from their father or a chromosome from their mother. This phenomenon is called genomic imprinting. Every individual has 23 pairs of chromosomes; one in each pair from their father and one from their mother. Individuals with the genetic disorder Prader-Willi syndrome lack certain genes from chromosome 15 of paternal origin or have inherited both copies of chromosome 15 from their mother. Patients with Angelman syndrome, another genetic disorder, are missing genes from the maternal chromosome 15 or have inherited both copies of chromosome 15 from their father. A variety of genetic disorders can occur when two chromosomes of a given pair are inherited from the same parent. An error may occur during the formation of sperm or eggs (meiosis) that eventually causes the inheritance of a pair of chromosomes from the same parent. Prenatal detection of this condition would allow diagnoses of a number of different disorders before birth. Maternal chromosomes may be distinguished from paternal chromosomes by biochemical modifications that occur during meiosis.

Human genetics, Phenotype, Phenotypes

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X inactivation in females with X-linked disease

Article Abstract:

The case of a young girl with an X-linked disease illustrates what can happen when X chromosome inactivation is unbalanced for some reason. Normally, these diseases only affect boys because girls have two X chromosomes, one of which is randomly inactivated. Therefore, half of their active X chromosomes are from their mother and half from their father. The healthy X chromosomes would cover up any X-linked mutations. An inherited defect in X chromosome inactivation is the most likely explanation for this girl's condition, because her mother and maternal grandmother also had a non-random X chromosome inactivation pattern.

Editorial, Wiskott-Aldrich syndrome, Dosage compensation (Genetics)

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Mutant neurogenin-3 in congenital malabsorptive diarrhea

Article Abstract:

The genomic DNA from three unrelated patients with sparse enteroendocrine cells are screened for mutations of neurogenin-3 (NEUROG3) and then the ability of the observed mutations to alter NEUROG3 function is tested using in vitro and in vivo assays. Loss-of-function mutations in NEUROG3 causes a disorder characterized by malabsorptive diarrhea and a lack of intestinal enteroendocrine cells.

Science & research, New England States, Research, Gene mutations, Gene mutation, Diarrhea, New England

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