Frequency of enzyme deficiency variants in erythrocytes of newborn infants

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

DOI:https://doi.org/10.1073/pnas.78.8.5046· OSTI ID:6113465

Mohrenweiser, H W

The frequency of enzyme deficiency variants, defined as alleles whose products are either absent or almost devoid of normal activity in erythrocytes, was determined for nine erythrocyte enzymes in some 675 newborn infants and in approximately 200 adults. Examples of this type of genetic abnormality, which in the homozygous condition are often associated with significant health consequences, were detected for seven of the nine enzymes studied. Fifteen inherited enzyme deficiency variants in 1809 determinations from adults were identified. Seven of the deficiency variants involved triosephosphate isomerase, a frequency of 0.01 in the newborn population. The average frequency of 2.4/1000 is 2 to 3 times the frequency observed for rare electrophoretic variants of erythrocyte enzymes in this same population.

• Research Organization: Univ. of Michigan Medical School, Ann Arbor
• OSTI ID: 6113465
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 78:8; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AGE GROUPS
BIOLOGICAL EFFECTS
BIOLOGICAL MATERIALS
BIOLOGY
BLOOD
BLOOD CELLS
BODY FLUIDS
CHILDREN
DISEASES
ENZYMES
ERYTHROCYTES
FREQUENCY MEASUREMENT
GENES
GENETIC EFFECTS
GENETICS
HEREDITARY DISEASES
INFANTS
MATERIALS
NATIONAL ORGANIZATIONS
RESEARCH PROGRAMS
US DOE
US ORGANIZATIONS