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KMID : 0578319930030010101
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Molecules and Cells
1993 Volume.3 No. 1 p.101 ~ p.107
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DNA Polymorphisms of the Human Engrailed-like Genes, EN1 and EN2
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Hong, Sung Soo
Suh, Jung Ae/Chae, Jae Jin´Kang, Byung young/Kim, Un Jyung/Kim, You Seob/Goh, Sung Ho/Namkoong, Yong
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Abstract
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Human engrailed-like genes, ENI and EN2, have been identified on the basis of their sequence homology with the mouse homeobox-containing genes, En-1 and En-2. We analyzed the restriction fragment length polymorphisms (RFLPs) of the human engrailed-like genes in Korean population using the cDNA probes (mp4, mp5, and mp6). Two polymorphisms of mp4 locus for EN2 gene containing the 5´ flanking region were observed after digestion with PvuII and RsaI, which identifies a two-allele PvuII RFLP with bands at 1.2 kb or 1.0 kb, and a two-allele RsaI RFLP with bands at 4.0 kb or 1.2 kb, respectively. Also, a polymorphism of the mp5 containing the homeobox from the same gene showed that SstI identifies a two-allele polymorphism with a band at 11.0 kb or 6.8 kb. The PvuIl and Rsal alleles for mp4 locus were in linkage disequilibrium and were also in disequilibrium with the SstI alleles for mp5 locus. A mp6 polymorphism for ENI gene was found in HaeIII restriction patterns, which identifies an invariant band at 0.46 kb and a simple two-allele polymorphism with a band at either 0.36 kb or 0.30 kb. According to the comparison of allele frequencies between Caucasians and Koreans, the EN loci polymorphisms are thought to be correlated with the human ethnic groups. Thus, we expect that the EN genes will be utilized as useful genetic markers for future mapping studies.
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