Linkage of dominant hereditary spherocytosis to the gene for the erythrocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin

Article Abstract:

Hereditary spherocytosis is passed as an autosomal (not sex-linked) dominant disorder and typically occurs in individuals of northern European heritage. The disorder affects red blood cells, which are marked by a pathologic fragility that leads to their rupture and to decreased oxygen-carrying ability in the blood. Consequently, anemia is a common condition among patients with hereditary spherocytosis. Microscopic examination reveals that a significant number of these red blood cells have a spheroidal shape, rather than the normal biconcave (dumbbell-shaped) morphology. Previous studies on the biochemical deficit of the spherocytic cells have associated the condition with various gene products that are involved in the structure of the red blood cell membrane. The present study evaluates a family of individuals with dominant hereditary spherocytosis; use of a new molecular DNA probe revealed a disorder of the gene for the membrane protein ankyrin. However, the primary defect of the ankyrin gene in this family remains unidentified. (Consumer Summary produced by Reliance Medical Information, Inc.)

Abnormalities, Causes of, Complications and side effects, Genetic aspects, Erythrocytes, Red blood cells, Spherocytosis, Hereditary, Hereditary spherocytosis

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Prenatal determination of fetal RhD type by DNA amplification

Article Abstract:

DNA typing of amniotic cells may be an effective method for determining the RhD type of a fetus during early pregnancy. An Rh-negative woman may develop antibodies against Rh factor if the fetus is Rh-positive, which can cause complications in subsequent pregnancies. RhD typing was performed on 15 fetuses using DNA typing of amniotic cells and fetal blood. It was performed on another 15 fetuses using DNA typing of chorionic villi cells and analysis of DNA from fetal tissue. DNA typing of amniotic cells agreed with the RhD type determined by DNA typing of fetal blood for all 15 fetuses. The RhD type determined by DNA typing of chorionic villi sampling agreed with the analysis of fetal tissue for all 15 fetuses. None of the samples from Rh-negative fetuses with an Rh-positive mother were contaminated with Rh-positive DNA from the mother.

Methods, Analysis, Usage, Polymerase chain reaction, Rh factor, Prenatal diagnosis

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Defective urinary concentrating ability due to a complete deficiency of aquaporin-1

Article Abstract:

People with a deficiency of aquaporin-1 are unable to concentrate their urine when deprived of water. Aquaporin-1 is a water channel protein in the kidneys.

Research, Kidneys, Kidney, Urination disorders

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