A leucine-to-proline substitution causes a defective [alpha]-antichymotrypsin allele associated with familial obstructive lung disease

Journal Article · Wed Sep 01 00:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1396· OSTI ID:7199544

Poller, W; Scholz, S; Fischer, M ^[1]; Faber, J P; Tief, K; Olek, K; Kirchgesser, M ^[2]; Weidinger, S ^[3]; Heidtmann, H H ^[4]

---

1. Univ. of Bochum (Germany)
2. Univ. of Bonn (Germany)
3. Univ. of Munich (Germany)
4. Univ. of Marburg (Germany)

Using denaturing gradient gel electrophoresis and direct sequencing of amplified genomic DNA, the authors have identified two defective mutants of the human [alpha][sub 1]-antichymotrypsin (ACT) gene associated with chronic obstructive pulmonary disease (COPD). A leucine 55-to-proline substitution causing a defective ACT allele (Bochum-1) was observed in a family with COPD in three subsequent generations. Another mutation, proline 229-to-alanine (Bonn-1), was associated with ACT serum deficiency in four patients with a positive family history. These mutations were not detected among 100 healthy control subjects, suggesting a possible pathogenetic role of ACT gene defects in a subset of patients with COPD. 14 refs., 1 fig., 1 tab.

• OSTI ID: 7199544
• Journal Information: Genomics; (United States), Vol. 17:3; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CHYMOTRYPSIN
INHIBITION
ENZYME INHIBITORS
GENE MUTATIONS
LUNGS
HEREDITARY DISEASES
DNA SEQUENCING
BODY
DISEASES
ENZYMES
HYDROLASES
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PEPTIDE HYDROLASES
PROTEINS
RESPIRATORY SYSTEM
SERINE PROTEINASES
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics
550900 - Pathology
550200 - Biochemistry