PCR haplotypes for the human Y chromosome based on alphoid satellite DNA variants and heteroduplex analysis.
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.
Universidade Federal de Minas Gerais, Departamento de Bioquimica, Belo Horizonte MG, Brazil.
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Santos
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Pena
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Tyler-Smith
D001483:Base Sequence; D002503:Centromere; D004276:DNA, Satellite / Q000235:genetics*; D015247:Deoxyribonuclease HindIII; D019143:Evolution, Molecular; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014998:Y Chromosome
D004276:DNA, Satellite; D009692:Nucleic Acid Heteroduplexes; D015247:Deoxyribonuclease HindIII