PMID- 22645469
OWN - NLM
STAT- MEDLINE
DCOM- 20121123
LR  - 20211021
IS  - 1537-744X (Electronic)
IS  - 2356-6140 (Print)
IS  - 1537-744X (Linking)
VI  - 2012
DP  - 2012
TI  - Mutation at the human D1S80 minisatellite locus.
PG  - 917235
LID - 10.1100/2012/917235 [doi]
LID - 917235
AB  - Little is known about the general biology of minisatellites. The purpose of this 
      study is to examine repeat mutations from the D1S80 minisatellite locus by 
      sequence analysis to elucidate the mutational process at this locus. This is a 
      highly polymorphic minisatellite locus, located in the subtelomeric region of 
      chromosome 1. We have analyzed 90,000 human germline transmission events and 
      found seven (7) mutations at this locus. The D1S80 alleles of the parentage trio, 
      the child, mother, and the alleged father were sequenced and the origin of the 
      mutation was determined. Using American Association of Blood Banks (AABB) 
      guidelines, we found a male mutation rate of 1.04 x 10(-4) and a female mutation 
      rate of 5.18 x 10(-5) with an overall mutation rate of approximately 7.77 x 
      10(-5). Also, in this study, we found that the identified mutations are in close 
      proximity to the center of the repeat array rather than at the ends of the repeat 
      array. Several studies have examined the mutational mechanisms of the 
      minisatellites according to infinite allele model (IAM) and the one-step stepwise 
      mutation model (SMM). In this study, we found that this locus fits into the 
      one-step mutation model (SMM) mechanism in six out of seven instances similar to 
      STR loci.
FAU - Balamurugan, Kuppareddi
AU  - Balamurugan K
AD  - School of Criminal Justice, University of Southern Mississippi, 118 College Drive 
      # 5127, Hattiesburg, MS 39406, USA. kuppareddi.balamurugan@usm.edu
FAU - Tracey, Martin L
AU  - Tracey ML
FAU - Heine, Uwe
AU  - Heine U
FAU - Maha, George C
AU  - Maha GC
FAU - Duncan, George T
AU  - Duncan GT
LA  - eng
GR  - I01 BX000293/BX/BLRD VA/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20120503
PL  - United States
TA  - ScientificWorldJournal
JT  - TheScientificWorldJournal
JID - 101131163
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Base Sequence
MH  - Child
MH  - Chromosomes, Human, Pair 1/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Minisatellite Repeats/*genetics
MH  - Molecular Sequence Data
MH  - Mouth Mucosa/pathology
MH  - *Mutation
MH  - Polymorphism, Genetic
MH  - Telomere/ultrastructure
MH  - Temperature
PMC - PMC3356730
EDAT- 2012/05/31 06:00
MHDA- 2012/12/10 06:00
PMCR- 2012/05/03
CRDT- 2012/05/31 06:00
PHST- 2011/10/30 00:00 [received]
PHST- 2012/01/05 00:00 [accepted]
PHST- 2012/05/31 06:00 [entrez]
PHST- 2012/05/31 06:00 [pubmed]
PHST- 2012/12/10 06:00 [medline]
PHST- 2012/05/03 00:00 [pmc-release]
AID - 10.1100/2012/917235 [doi]
PST - ppublish
SO  - ScientificWorldJournal. 2012;2012:917235. doi: 10.1100/2012/917235. Epub 2012 May 
      3.