Frequency of thermostability variants: estimation of total rare variant frequency in human populations

Journal Article · Tue Sep 01 04:00:00 EDT 1981 · Proc. Natl. Acad. Sci. U.S.A.; (United States)

DOI:https://doi.org/10.1073/pnas.78.9.5729· OSTI ID:5890874

Mohrenweiser, H W; Neel, J V

Eight erythrocyte enzymes were examine for thermostability in an unselected sample of 100 newborn infants. Three thermolabile variants, one each of lactate dehydrogenase, glucosephosphate isomerase, and glucose-6-phosphate dehydrogenase, were identified, none of which was detectable as a variant by standard electrophoretic techniques. All were inherited. This frequency of 3.8 heritable thermostability variants per 1000 determinations is to be compared with a frequency of electrophoretically detectable variants of 1.1 per 1000 determinations, a frequency of 2.4 enzyme-deficiency variants per 1000 determinations, and a frequency of individuals with rare enzyme deficiency or electrophoretic or thermostability (or both) variants at these loci is 8.4 per 1000 determinations. A similar distribution and frequency is seen when the comparison is limited to the seven loci studied by all techniques. it is clear that not all of the electrophoretic and thermostability variants present in the population are detected by the techniques used in this study. Accordingly, it is estimated that the true frequency of carriers of a rare variant for each of these enzyme-coding loci averages greater than 10/1000. Some implications of these frequencies for human disease are discussed.

• Research Organization: Univ. of Michigan Medical School, Ann Arbor
• OSTI ID: 5890874
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 78:9; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AGE GROUPS
BIOLOGICAL MATERIALS
BIOLOGICAL VARIABILITY
BIOLOGY
BLOOD
BLOOD CELLS
BODY FLUIDS
CHILDREN
DISEASES
ELECTROPHORESIS
ENZYMES
ERYTHROCYTES
GENETIC VARIABILITY
GENETICS
HEMIACETAL DEHYDROGENASES
INFANTS
ISOMERASES
LACTATE DEHYDROGENASE
MATERIALS
MUTATIONS
OXIDOREDUCTASES
TEMPERATURE EFFECTS