LOCUS ACTBP2 (SE33) - SEQUENCING DATA REVEAL CONSIDERABLE POLYMORPHISM

被引：84

作者：

MOLLER, A ^{[1
]}

BRINKMANN, B ^{[1
]}

机构：

[1] WESTFAL WILHELMS UNIV,INST LEGAL MED,VON ESMARCH STR 86,D-48149 MUNSTER,GERMANY

来源：

INTERNATIONAL JOURNAL OF LEGAL MEDICINE | 1994年 / 106卷 / 05期

关键词：

ACTBP2; POLYMORPHISM; SEQUENCING; SEQUENCE VARIATION; ALLELIC LADDER;

D O I：

10.1007/BF01225417

中图分类号：

DF [法律]; D9 [法律]; R [医药、卫生];

学科分类号：

0301 ; 10 ;

摘要：

A total of 50 different ACTBP2 (human beta-actin related pseudogene) alleles and the cell line K562 were sequenced and analysed. Sequence data revealed not only length polymorphism but also a highly variable sequence polymorphism. 2 different sequence structures were characterised. Type I (223-259 bp) contained the known regular 4 bp repeat AAAG. Type II (265-309 bp) revealed a further hexanucleotide unit AAAAAG in addition to the common AAAG which only occurs once in the repeat region. The position of this insertion showed considerable variation. To obtain a regular spaced allelic ladder 20 of the sequenced alleles were selected. Denaturing gels and high resolution/non-denaturing gels were compared and striking differences could be seen between the 2 gel systems. Separation of the alleles on a 6% denaturing gel and analysis on the ABI 373A Sequencer revealed fragment sizes which corresponded to,the sequencing data but were in general 6-10 bp longer. In contrast, in non-denaturing gels some alleles showed different electrophoretic mobilities compared to the sequenced allelic ladder which could indicate different fragment length and/or different sequence structure.

引用

页码：262 / 267

页数：6

共 19 条

[1] THE HUMAN D11S554 LOCUS - 4 DISTINCT FAMILIES OF REPEAT PATTERN ALLELES AT ONE LOCUS [J].

ADAMS, M ;

URQUHART, A ;

KIMPTON, C ;

GILL, P .

HUMAN MOLECULAR GENETICS, 1993, 2 (09) :1373-1376

[2] POPULATION AND FAMILY DATA OF RFLPS USING SELECTED SINGLE-LOCUS AND MULTILOCUS SYSTEMS [J].

BRINKMANN, B ;

RAND, S ;

WIEGAND, P .

INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1991, 104 (02) :81-86

[3]

BRINKMANN B, 1992, 3RD P INT S HUM ID, P357

[4]

BUDOWLE B, 1991, AM J HUM GENET, V48, P137

[5] GENETIC-VARIATION AT 5 TRIMERIC AND TETRAMERIC TANDEM REPEAT LOCI IN 4 HUMAN-POPULATION GROUPS [J].

EDWARDS, A ;

HAMMOND, HA ;

JIN, L ;

CASKEY, CT ;

CHAKRABORTY, R .

GENOMICS, 1992, 12 (02) :241-253

[6]

GROSSMAN LI, 1989, PROCEEDINGS OF THE INTERNATIONAL SYMPOSIUM ON THE FORENSIC ASPECTS OF DNA ANALYSIS, P37

[7] SEQUENCE DEPENDENCE OF THE CURVATURE OF DNA - A TEST OF THE PHASING HYPOTHESIS [J].

HAGERMAN, PJ .

BIOCHEMISTRY, 1985, 24 (25) :7033-7037

[8]

KIMPTON CP, 1993, PCR METH APPL, V3, P13

[9]

KIMPTON CP, 1992, HUM MOL GENET, V1, P28

[10]

Maniatis T, 1989, MOL CLONING

← 1 2 →