이상 Hemoglobin의 검출을 DNA수준에서의 시도를 위한 연구 = Studies on the Abnormal Hemoglobin Screening in the DNA Level

다국어 초록 (Multilingual Abstract)

A locus in the human β-globin gene family, not associated with structural gene, has been found to be a large number of DNA sequence variation. Some of these could be detectable as variants in the length of the DNA fragments produced by a restriction endonuclease digestion. Accordingly, we have investigated on the genetic variation in the 5' flanking region of the chromosomal DNA regions containing the human β-globin structural genes in the both adult and fetal cord blood cells. Beta-globin specific fragments derived from the endonuclease digests of total blood cell DNA were identified in order to carried out by agarose gel electrophoresis and hybridization with synthetic oligonucleotide labeled at the 5' end with 32P-r-ATP. In the Southern hybridization, synthetic 40 nucleotides complementary to the human β3-15 globin gene sequence was used as hybridization probe to screen human genomic DNA sample for this gene. We have not found the difference between the restriction fragment length polymorphism of the adult fetal β-globin genes. At present our results indicated that the restriction ezymes(EcoRI, BamHI, Bg1II, AvaⅡ, HpaⅠ, HinfⅠ, HgiAⅠ) were inappropriated for the abnormal hemoglobin screening.