Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7

Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal mutation rates to new length alleles were estimated from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that B6.7 is one o...

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Veröffentlicht in:	Human molecular genetics 1999-05, Vol.8 (5), p.879-888
Hauptverfasser:	Tamaki, Keiji, May, Celia A., Dubrova, Yuri E., Jeffreys, Alec J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Base Sequence Biological and medical sciences Classical genetics, quantitative genetics, hybrids Deoxyribonucleases, Type II Site-Specific - genetics Deoxyribonucleases, Type II Site-Specific - metabolism Fundamental and applied biological sciences. Psychology Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Germ-Line Mutation Human Humans Male Minisatellite Repeats Molecular Sequence Data Pedigree Polymerase Chain Reaction - methods Repetitive Sequences, Nucleic Acid Sequence Deletion Spermatozoa - physiology
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Zusammenfassung:	Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal mutation rates to new length alleles were estimated from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that B6.7 is one of the most unstable minisatellites isolated to date. Mutation at this locus was also analysed by small pool PCR of sperm and blood DNA. Male germline instability varied from
ISSN:	0964-6906 1460-2083
DOI:	10.1093/hmg/8.5.879