Biomedical subjects

A Arnason

Publications and source records attributed to A Arnason.

58 records · Page 4Linked to original sources

PubMedDate not supplied

Linkage of an X-chromosome cleft palate gene.

Many congenital malformations, such as cleft palate and neural tube defects, have a multifactorial origin involving both environmental and genetic factors. Conditions such as these may be exclusively monogenic, polygenic or environmental, but in most cases both genetic and environmental factors are involved. This study describes the sub-chromosomal localization of a single gene defect causing cleft palate and ankyloglossia (tongue-tied) in a large Icelandic family. This defect is a model for the analysis of other neural-crest malformations that show a more complex multifactorial inheritance pattern.

Cleft Palate↗

PubMedDate not supplied

Species hybridization between a female blue whale (Balaenoptera musculus) and a male fin whale (B. physalus): molecular and morphological documentation.

In 1986 a large, pregnant, female balaenopterid whale was caught in Icelandic waters. The animal had morphological characteristics of both the blue and the fin whale. Molecular analyses of the whale showed that it was a hybrid between a female blue whale and a male fin whale. The descent of the species hybrid was established without access to either parental specimen. Analysis of the fetus showed that it had a blue whale father. The present report of species hybridization between the two largest cetacean species, the blue and the fin whale, documents the occurrence of cetacean species hybridization in the wild. It is also the first example of any cetacean hybridization giving rise to a fertile offspring.

Animals↗

PubMedDate not supplied

Serum esterases of Icelanders. I. A "silent" pseudocholinesterase gene in an Icelandic family.

During an investigation of cousin marriages in Iceland, five brothers and sisters were found to be homozygous for the "silent" allele of plasma cholinesterase. Clinical information on two family members is presented and discussed, and the possibility of the presence of a "nearly silent" plasma esterase allele, in one of the family units investigated, is suggested.

Alleles↗

PubMedDate not supplied

Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis.

Cystatin C, a protein inhibitor of lysosomal cysteine proteinases, was demonstrated by immunohistochemical techniques to be present in the birefringent amyloid deposits of the small arteries in the cerebrum, cerebellum, and leptomeninges of 10 Icelandic individuals with hereditary cerebral hemorrhage with amyloidosis. Specimens from other organs were investigated in one of the patients, and amyloid angiopathy characterized by an immunoreactivity of cystatin C was found in a submandibular lymph node. No immunoreactivity of amyloid fibril protein AA, kappa or lambda immunoglobulin light chain, or prealbumin was observed. Significantly low cerebrospinal fluid concentrations of cystatin C were found in all 9 investigated individuals with hereditary cerebral hemorrhage with amyloidosis. The concentrations of beta 2-microglobulin, albumin, and IgG in the cerebrospinal fluid were within normal limits. Isoelectric focusing showed that cystatin C from the cerebrospinal fluid of 9 patients with hereditary cerebral hemorrhage with amyloidosis had an isoelectric point identical to that of normal individuals. This investigation demonstrates that hereditary cerebral hemorrhage with amyloidosis may be diagnosed by two laboratory methods: immunohistochemical investigation of cystatin C in brain tissue specimens and quantitation of cystatin C in cerebrospinal fluid.

Adult↗