PCR HAPLOTYPES FOR THE HUMAN Y-CHROMOSOME BASED ON ALPHOID SATELLITE DNA VARIANTS AND HETERODUPLEX ANALYSIS

被引:46
作者
SANTOS, FR [1 ]
PENA, SDJ [1 ]
TYLERSMITH, C [1 ]
机构
[1] UNIV OXFORD, DEPT BIOCHEM, MRC, CHROMOSOME MOLEC BIOL GRP, OXFORD OX1 3QU, ENGLAND
关键词
DNA POLYMORPHISM; REPEATED SEQUENCE; INDIVIDUAL PROFILING; HUMAN DIVERSITY; MALE LINEAGE; HUMAN EVOLUTION;
D O I
10.1016/0378-1119(95)00501-V
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have developed a system for revealing informative and useful haplotypes for the human Y chromosome using PCR. Variant alphoid satellite DNA subunits were amplified and analysed by digestion with HindIII to score a restriction site polymorphism, or on polyacrylamide gels to reveal 13 heteroduplex haplotypes. Heteroduplexes are double-stranded DNA molecules containing mismatches; the haplotype is the combination of alleles on the same chromosome. Structural studies showed that the heteroduplexes analysed here were formed from loci at the left (short arm) and right (long arm) edges of the centromeric alphoid array which differed by a 4-bp insertion/deletion and several point mutations. Consequently, many haplotypes may have arisen only once and are useful for evolutionary studies.
引用
收藏
页码:191 / 198
页数:8
相关论文
共 25 条
[1]   CONSTRUCTION AND CHARACTERIZATION OF A YEAST ARTIFICIAL CHROMOSOME LIBRARY CONTAINING 7 HAPLOID HUMAN GENOME EQUIVALENTS [J].
ALBERTSEN, HM ;
ABDERRAHIM, H ;
CANN, HM ;
DAUSSET, J ;
LEPASLIER, D ;
COHEN, D .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (11) :4256-4260
[2]   A HUMAN Y-LINKED DNA POLYMORPHISM AND ITS POTENTIAL FOR ESTIMATING GENETIC AND EVOLUTIONARY DISTANCE [J].
CASANOVA, M ;
LEROY, P ;
BOUCEKKINE, C ;
WEISSENBACH, J ;
BISHOP, C ;
FELLOUS, M ;
PURRELLO, M ;
FIORI, G ;
SINISCALCO, M .
SCIENCE, 1985, 230 (4732) :1403-1406
[3]   A SURVEY OF THE GENOMIC DISTRIBUTION OF ALPHA-SATELLITE DNA ON ALL THE HUMAN-CHROMOSOMES, AND DERIVATION OF A NEW CONSENSUS SEQUENCE [J].
CHOO, KH ;
VISSEL, B ;
NAGY, A ;
EARLE, E ;
KALITSIS, P .
NUCLEIC ACIDS RESEARCH, 1991, 19 (06) :1179-1182
[4]   STRUCTURE OF THE SEQUENCES ADJACENT TO THE CENTROMERIC ALPHOID SATELLITE DNA ARRAY ON THE HUMAN Y-CHROMOSOME [J].
COOPER, KF ;
FISHER, RB ;
TYLERSMITH, C .
JOURNAL OF MOLECULAR BIOLOGY, 1993, 230 (03) :787-799
[5]   THE HUMAN Y-CHROMOSOME - OVERLAPPING DNA CLONES SPANNING THE EUCHROMATIC REGION [J].
FOOTE, S ;
VOLLRATH, D ;
HILTON, A ;
PAGE, DC .
SCIENCE, 1992, 258 (5079) :60-66
[6]   A SEARCH FOR RESTRICTION FRAGMENT LENGTH POLYMORPHISM ON THE HUMAN Y-CHROMOSOME [J].
JAKUBICZKA, S ;
ARNEMANN, J ;
COOKE, HJ ;
KRAWCZAK, M ;
SCHMIDTKE, J .
HUMAN GENETICS, 1989, 84 (01) :86-88
[7]  
JOBLING MA, 1994, CYTOGENET CELL GENET, V67, P390
[8]   A SURVEY OF LONG-RANGE DNA POLYMORPHISMS ON THE HUMAN Y-CHROMOSOME [J].
JOBLING, MA .
HUMAN MOLECULAR GENETICS, 1994, 3 (01) :107-114
[9]   P49F, A HIGHLY POLYMORPHIC PROBE, THAT DETECTS TAQ1 RFLPS ON THE HUMAN Y-CHROMOSOME [J].
LUCOTTE, G ;
NGO, NY .
NUCLEIC ACIDS RESEARCH, 1985, 13 (22) :8285-8285
[10]   THE HUMAN Y-CHROMOSOME SHOWS A LOW-LEVEL OF DNA POLYMORPHISM [J].
MALASPINA, P ;
PERSICHETTI, F ;
NOVELLETTO, A ;
IODICE, C ;
TERRENATO, L ;
WOLFE, J ;
FERRARO, M ;
PRANTERA, G .
ANNALS OF HUMAN GENETICS, 1990, 54 :297-305