Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I

J Hundrieser; T Sanguansermsri; M Laig; M Pape; W Kühnau; G Flatz

doi:10.3109/03630269009002255

Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I

Hemoglobin. 1990;14(1):69-77. doi: 10.3109/03630269009002255.

Authors

J Hundrieser¹, T Sanguansermsri, M Laig, M Pape, W Kühnau, G Flatz

Affiliation

¹ Department of Human Genetics, Medizinische Hochschule Hannover, Federal Republic of Germany.

PMID: 2384313
DOI: 10.3109/03630269009002255

Abstract

Hb Suan-Dok [alpha 2(109)(G16)Leu-greater than Arg beta 2] has an alpha-thalassemia-like effect due to low production and instability of the altered alpha-globin chain. Since the Hb Suan-Dok mutation (CTG-greater than CGG) creates a new Sma I restriction site, it was possible to diagnose the mutation by restriction analysis. The location in the alpha 2-globin gene was confirmed. The distribution of alpha-globin gene anomalies and a beta-thalassemia gene in the original family, deduced from examinations at the protein level, was verified by DNA analysis.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Amino Acid Sequence
Base Sequence
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific
Female
Globins / genetics*
Hemoglobinopathies / complications
Hemoglobinopathies / genetics*
Hemoglobins, Abnormal / genetics*
Hemoglobins, Abnormal / isolation & purification
Humans
Male
Restriction Mapping
Thalassemia / complications

Substances

Hemoglobins, Abnormal
hemoglobin Suan-Dok
Globins
CCCGGG-specific type II deoxyribonucleases
Deoxyribonucleases, Type II Site-Specific