Feasibility of restriction enzyme protocols for the molecular diagnosis of abnormal hemoglobins in Turkish population
✍ Scribed by Akar, N.; Akar, E.; Tastan, H.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 73 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0361-8609
No coin nor oath required. For personal study only.
✦ Synopsis
To the Editor: Hb S (6 Glu-Val), Hb D Los Angeles (121 Glu-Gln) and Hb O Arab (121 Glu-Lys) are the most common variants in Turkish population including Turkish Cypriots [1,2]. Either during screening of the population or to enlighten the reason of anemia; several abnormal hemoglobin variants can be detected by screening techniques and further molecular identification of these variants is needed. There are several identification methods such as protein chemical structural analysis, restriction enzyme digestion, sequencing, and oligonucleotide hybridization [3,4]. Previously, we and others reported restriction enzyme digestion protocols for direct detection of common hemoglobin variants found in general population [5][6][7][8][9]. These methods were convenient, rapid, cheap, and nonradioactive. In this report, we aim to determine the feasibility of these restriction enzyme protocols in our population.
During the last 4 years, 65 hemoglobin variants were referred to our laboratory for molecular analysis, excluding hemoglobin S. These were analysed according to previously reported restriction enzyme analysis protocols [5-9] (Table ). Fifty-four of them were identified. Of these 21 were Hb D Los Angeles (121 Glu-Gln); 23 were Hb O Arab (121 Glu→Lys); five were Hb C (6 Glu-Lys); one was Hb D Los Angeles in combination with Hb S; two were Hb E Saskatoon (22 Glu-Lys); and two were (26 Glu-Lys).
Further analysis was needed in only 11 (16.9%) samples. These variants were moved as Hb D (7 case); Hb E (2 case) and Hb J (2 cases) at cellulose acetate electrophoresis.
Our data revealed that our previously reported restriction enzyme digestion protocols are convenient, rapid and feasible, especially in populations where these mutations are prevalent.