PMID- 11175295
OWN - NLM
STAT- MEDLINE
DCOM- 20010405
LR  - 20081121
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 9
IP  - 1
DP  - 2001 Jan
TI  - Haplogroup-specific deviation from the stepwise mutation model at the 
      microsatellite loci DYS388 and DYS392.
PG  - 22-6
AB  - Deviation from the stepwise mutation model (SMM) at specific human microsatellite 
      loci has implications for population genetic and forensic investigations. In the 
      present study, data on six Y chromosome-specific microsatellites were pooled for 
      455 paternally unrelated males from six Middle Eastern populations. All 
      chromosomes were assigned to three haplogroups defined by six binary 
      polymorphisms. Two of the microsatellite loci tested, DYS388 and DYS392, 
      displayed marked haplogroup-specific differences in their allele variability. A 
      bimodal distribution of short and long alleles was observed for DYS388 in 
      haplogroup 1 and for DYS392 in haplogroups 1 and 2. Further investigation showed 
      that the short/long alleles segregated almost completely between genealogically 
      distinct haplogroups defined by additional binary markers. Thus, these two loci 
      have a discriminatory power similar to a binary polymorphism. DYS388 was 
      characterised by an extremely low mutation rate in haplogroups 2 and 3, as was 
      DYS392 in haplogroup 3. Sequence analysis of the repeat regions at the two loci 
      revealed no irregularities, indicating that the triplet expansion in these loci 
      is not controlled by sequence variation at the repeat level. A high frequency of 
      long DYS388 alleles has, so far, been found only in populations originating in 
      the Middle East, suggesting that this microsatellite is useful as a 
      region-specific marker.
FAU - Nebel, A
AU  - Nebel A
AD  - Department of Hematology, Hebrew University, Hadassah Medical School, Jerusalem, 
      Israel.
FAU - Filon, D
AU  - Filon D
FAU - Hohoff, C
AU  - Hohoff C
FAU - Faerman, M
AU  - Faerman M
FAU - Brinkmann, B
AU  - Brinkmann B
FAU - Oppenheim, A
AU  - Oppenheim A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Alleles
MH  - DNA/chemistry/genetics
MH  - Gene Frequency
MH  - Genetic Variation
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/*genetics
MH  - Models, Genetic
MH  - Mutation
MH  - Sequence Analysis, DNA
MH  - Y Chromosome/*genetics
EDAT- 2001/02/15 11:00
MHDA- 2001/04/06 10:01
CRDT- 2001/02/15 11:00
PHST- 2001/02/15 11:00 [pubmed]
PHST- 2001/04/06 10:01 [medline]
PHST- 2001/02/15 11:00 [entrez]
AID - 10.1038/sj.ejhg.5200577 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2001 Jan;9(1):22-6. doi: 10.1038/sj.ejhg.5200577.