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Biomedical subjects

A D Merritt

Publications and source records attributed to A D Merritt.

At least 55 records · Page 3Linked to original sources

Do brine shrimp diagnose cystic fibrosis?

The nauplii of the brine shrimp Artemia salina are dependent upon the function of their salt gland to maintain osmotic pressure within narrow limits. A number of drugs interfere with this function and are lethal to the nauplii. Saliva and serum from normal persons, patients with cystic fibrosis, and obligate heterozygotes were tested for lethal effect against brine shrimp nauplii. At salt concentrations between 100 mM and 2.5 no difference was found among the phenotypes. At lower concentrations a difference was noted occasionally between some normal subjects and some individuals carrying one or two genes for cystic fibrosis. Data from an independent series of experiments indicate that the naupliar deaths result from distorted ratios of Na+/K+ and not from a specific gene product. No difference was noted in the O2 uptake of nauplii treated with saliva or serum obtained from normal subjects, patients with cystic fibrosis, or obligate heterozygotes.

Animals↗

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.

Thirty families were studied to determine genetic and evnironmental factors involved in holoprosencephaly. Those with chromosomal abnormalities were excluded. Many factors appear to cluster in proband families, such as mental retardation, mental illness, endocrine disorders, increased twinning and poverty level socioeconomic status. The empiric recurrence risk was 6%. Among 7 with lobar holoprosencephaly, there were 3 females and 4 males, while there were 19 females and 6 males with alobar holoprosencephaly.

Abnormalities, Severe Teratoid↗

Genetic studies of human acidic salivary protein (Pa).

The phenotypic expression of a dominantly inherited human salivary acidic protein (Pa) has been described in acid-urea starch and in Tris-borate acrylamide gel systems. Estimates of the Pa+ allelic frequencies in American Caucasians, American blacks, and Orientals are .21, .14, and .42, respectively. The genetic and biochemical similarities to another series of proline-rich salivary proteins, Pr, and to a pair of similarly staining salivary proteins, Db (double band), are evaluated. It is concluded that either one locus or two (or three) tightly linked loci are viable explanations for this polymorphic system(s). It is suggested that the three factors, Pa, Pr, and Db, be treated as separate loci to allow clarification of their genetic relationships.

Alleles↗

Partial purification and characterization of a polymorphic protein (Pa) in human parotid saliva.

A polymorphic acidic protein (Pa) has been isolated from human parotid saliva by the use of ion-exchange and gel filtration chromatography. Following these purification procedures, analytical anionic polyacrylamide disc gel electrophoresis revealed a single stainable band. Amino acid analysis demonstrated a protein particularly rich in proline, glutamic acid, and glycine, but with reduced amounts of threonine and no tyrosine. Only a very small percentage of carbohydrate was detected. Isoelectric focusing at pH 3-10 verified the acidic character of this protein with an isoelectric point in the range pH 3.9-4.5. Other salivary proteins called Pa-II, possibly related physiologically and genetically to the Pr system, were also partially purified and studied. Differences were noted between Pa and Pa-II proteins in molecular size and amino acid composition.

Amino Acids↗

Genetic variants of thyroxine-binding globulin (TBG).

New genetic variants of decreased TBG binding capacity observed in our studies are described and discussed in relation to previously reported variant types. Although single factor inheritance may explain the strikingly different phenotypes found in X-linked variants it cannot explain the wide variation discerned in the majority of individuals in our control population or the phenomenon of nonpentrance in one of our families. TBG binding capacity may be a polygenic trait with many loci contributing to the observed phenotypes.

Adult↗