PMID- 8349120
OWN - NLM
STAT- MEDLINE
DCOM- 19930916
LR  - 20210915
IS  - 0016-6731 (Print)
IS  - 0016-6731 (Linking)
VI  - 134
IP  - 3
DP  - 1993 Jul
TI  - VNTR allele frequency distributions under the stepwise mutation model: a computer 
      simulation approach.
PG  - 983-93
AB  - Variable numbers of tandem repeats (VNTRs) are a class of highly informative and 
      widely dispersed genetic markers. Despite their wide application in biological 
      science, little is known about their mutational mechanisms or population 
      dynamics. The objective of this work was to investigate four summary measures of 
      VNTR allele frequency distributions: number of alleles, number of modes, range in 
      allele size and heterozygosity, using computer simulations of the one-step 
      stepwise mutation model (SMM). We estimated these measures and their probability 
      distributions for a wide range of mutation rates and compared the simulation 
      results with predictions from analytical formulations of the one-step SMM. The 
      average heterozygosity from the simulations agreed with the analytical 
      expectation under the SMM. The average number of alleles, however, was larger in 
      the simulations than the analytical expectation of the SMM. We then compared our 
      simulation expectations with actual data reported in the literature. We used the 
      sample size and observed heterozygosity to determine the expected value, 5th and 
      95th percentiles for the other three summary measures, allelic size range, number 
      of modes and number of alleles. The loci analyzed were classified into three 
      groups based on the size of the repeat unit: microsatellites (1-2 base pair (bp) 
      repeat unit), short tandem repeats [(STR) 3-5 bp repeat unit], and minisatellites 
      (15-70 bp repeat unit). In general, STR loci were most similar to the simulation 
      results under the SMM for the three summary measures (number of alleles, number 
      of modes and range in allele size), followed by the microsatellite loci and then 
      by the minisatellite loci, which showed deviations in the direction of the 
      infinite allele model (IAM). Based on these differences, we hypothesize that 
      these three classes of loci are subject to different mutational forces.
FAU - Shriver, M D
AU  - Shriver MD
AD  - Center for Demographic and Population Genetics, Graduate School of Biomedical 
      Sciences, University of Texas Health Science Center, Houston 77225.
FAU - Jin, L
AU  - Jin L
FAU - Chakraborty, R
AU  - Chakraborty R
FAU - Boerwinkle, E
AU  - Boerwinkle E
LA  - eng
GR  - 1 R01-GM41399/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genetics
JT  - Genetics
JID - 0374636
SB  - IM
MH  - *Alleles
MH  - *Computer Simulation
MH  - *Gene Frequency
MH  - Heterozygote
MH  - *Models, Genetic
MH  - *Mutation
MH  - *Repetitive Sequences, Nucleic Acid
PMC - PMC1205532
EDAT- 1993/07/01 00:00
MHDA- 1993/07/01 00:01
PMCR- 1993/10/01
CRDT- 1993/07/01 00:00
PHST- 1993/07/01 00:00 [pubmed]
PHST- 1993/07/01 00:01 [medline]
PHST- 1993/07/01 00:00 [entrez]
PHST- 1993/10/01 00:00 [pmc-release]
AID - 1343983 [pii]
AID - 10.1093/genetics/134.3.983 [doi]
PST - ppublish
SO  - Genetics. 1993 Jul;134(3):983-93. doi: 10.1093/genetics/134.3.983.