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Molecular evidence for human alpha 2-HS glycoprotein (AHSG) polymorphism
1Tokai University School of Medicine, Department of Forensic Medicine, Kanagawa, Japan. osawa@is.icc.u-tokai.ac.jp
Human Genetics
|January 1, 1997
Summary
Genetic variations in Alpha 2-HS glycoprotein (AHSG) were identified. Specific nucleotide substitutions at positions 230 and 238 distinguish common AHSG alleles, providing insight into human plasma protein polymorphism.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Alpha 2-HS glycoprotein (AHSG) is a polymorphic human plasma protein.
- Isoelectric focusing (IEF) reveals genetic variations in AHSG, with common alleles AHSG*1 and AHSG*2.
Purpose of the Study:
- To determine the molecular basis of AHSG genetic polymorphism.
- To identify the specific nucleotide exchanges responsible for AHSG*1 and AHSG*2 alleles.
Main Methods:
- RT-PCR amplification of AHSG cDNA from liver tissue.
- DNA sequencing to identify nucleotide differences.
- PCR-RFLP analysis using genomic DNA to confirm specific substitutions.
Main Results:
- Six single nucleotide differences were found in AHSG cDNA compared to the reference sequence.
- Nucleotide substitutions at positions 230 (C>T) and 238 (C>G) were associated with AHSG phenotype 2-1 or 2.
- PCR-RFLP confirmed these substitutions correspond to AHSG*1 (Thr230, Thr238) and AHSG*2 (Met230, Ser238).
Conclusions:
- The genetic polymorphism of Alpha 2-HS glycoprotein (AHSG) is attributed to specific nucleotide substitutions.
- Amino acid changes at positions 230 and 238 define the common AHSG*1 and AHSG*2 alleles.
- These findings clarify the molecular basis of AHSG genetic variation in human plasma.