Hereditary overexpression of adenosine deaminase in erythrocytes: Evidence for a cis-acting mutation

Journal Article · Fri Oct 01 00:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5135245

Chen, E H ^[1]; Tartaglia, A P ^[2]; Mitchell, B S ^[3]

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1. Univ. of Michigan, Ann Arbor, MI (United States)
2. Albany Medical College, Albany, MI (United States)
3. Univ. of North Carolina, Chapel Hill, NC (United States)

Overexpression of adenosine deaminase (ADA) in red blood cells is inherited as an autosomal dominant trait and causes hemolytic anemia. The increased ADA activity in erythrocytes is due to an increase in steady-state levels of ADA mRNA of normal sequence. Increased ADA mRNA may be due to a cis-acting mutation which results in increased transcription or a loss of down-regulation during erythroid differentiation. Alternatively, it is possible that the mutation is in a trans-acting factor which interacts with normal ADA transcriptional elements to cause overexpression in red blood cells. To discriminate between a cis-acting and a trans-acting mutation, the authors took advantage of a highly polymorphic TAAA repeat located at the tail end of an Alu repeat approximately 1.1 kb upstream of the ADA gene. Using PCR to amplify this region, the authors identified five different alleles in 19 members of the family. All 11 affected individuals had an ADA allele with 12 TAAA repeats, whereas none of the 8 normal individuals did. The authors conclude that this disorder results from a cis-acting mutation in the vicinity of the ADA gene. 24 refs., 3 figs.

• OSTI ID: 5135245
• Journal Information: American Journal of Human Genetics; (United States), Vol. 53:4; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
ADENOSINE
DEAMINATION
ANEMIAS
GENE MUTATIONS
ERYTHROCYTES
ENZYME ACTIVITY
DETECTION
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CHEMICAL REACTIONS
DISEASES
HEMIC DISEASES
MATERIALS
MUTATIONS
NUCLEOSIDES
NUCLEOTIDES
ORGANIC COMPOUNDS
RIBOSIDES
SYMPTOMS
550400* - Genetics