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KMID : 0381120090310030235
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Genes and Genomics
2009 Volume.31 No. 3 p.235 ~ p.241
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Analysis of the Novel VNTR Polymorphisms of MUC8 Gene
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Lee Ji-Sun
Kim Ja-Young
Ahn Eun-Kyung
Lee Sang-Yeop
Jeong Yun-Hee
Lee Se-Ra
Leem Sun-Hee
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Abstract
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Analysis of mucin genes has identified the presence of several features that may represent important functional domains in mucin glycoproteins. In the central region of each mucin, there are a variable number of tandem repeats (VNTR; minisatellites). However, their genomic levels are unclear because of complex genomic properties. We report here the distribution of VNTR and polymorphic analysis of MUC8. We searched for VNTR of MUC8 using the Tandem Repeat Finder program and found nine VNTR motif. Six (MUC8 -MS1~MS6) among the nine VNTRs were evaluated in this study. Each VNTR in MUC8 region was analyzed in genomic DNA obtained from 200 unrelated individuals and multi-generational families. All VNTRs (MUC8 -MS1, -MS2, -MS3, -MS4, -MS5 and -MS6) were genotyped as polymorphic. The degree of polymorphism within the MUC8 -MS5 showed the highest heterozygosity (h = 0.786) in the MUC8 region. In order to perform a segregation analysis of the VNTRs in MUC8, we analyzed genomic DNA obtained from two generations of five families and from three generations of two families. Six of the polymorphic VNTRs were transmitted through meiosis following a Mendelian inheritance, which suggests that polymorphic VNTRs could be useful markers for paternity mapping and DNA fingerprinting.
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KEYWORD
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mucin, MUC8, VNTR, polymorphism, DNA typing marker
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