PMID- 12850414
OWN - NLM
STAT- MEDLINE
DCOM- 20031009
LR  - 20211203
IS  - 0379-0738 (Print)
IS  - 0379-0738 (Linking)
VI  - 134
IP  - 2-3
DP  - 2003 Jul 8
TI  - Grouping of Y-STR haplotypes discloses European geographic clines.
PG  - 172-9
AB  - Y-STR haplotypes are widely studied in Europe and an extensive databasing effort 
      has been conducted (http://www.ystr.org). The distribution of these haplotypes 
      has been considered to present no evidence for substructure at central and 
      southern European level. This picture contrasts with the one that results from Y 
      haplogroups defined by binary markers. This paradox has been solved by admitting 
      that the high STR mutation rate and corresponding recurrence has erased 
      geographic structuration. This explanation prompted us to reanalyse Y-STR 
      haplotypes distribution bearing in mind the commonly admitted model for the 
      generation of diversity in these markers, namely the stepwise mutation model 
      (SMM) and, thus, taking the molecular distance between haplotypes into 
      consideration. Accordingly, we have studied the European distribution of the two 
      most frequent haplotypes in the Iberian Peninsula and their one step neighbours 
      using the European samples deposited in the Y STR database (http://www.ystr.org). 
      For the first group we found a clear-cut decreasing W-E gradient, while for the 
      second the highest frequencies were found in the Iberian Peninsula (3.98% in 
      Portugal and 3.85% in Spain), dropping to 2.88% in France and showing a less well 
      defined SW-NW gradient. Furthermore, we have tested the agreement between 
      haplotype groups and binary markers haplogroups in a random sample of 292 
      individuals from Northern Portugal. Our results demonstrate that (a) Y-STR 
      haplotype data can be used for wide-scale anthropological approaches disclosing 
      information that has been considered only available through binary markers and 
      (b) forensic use of continental databases needs careful refinement, due to the 
      macro-geographic pattern now evidenced.
FAU - Gusmao, Leonor
AU  - Gusmao L
AD  - IPATIMUP, Instituto de Patologia e Imunologia, Molecular da Universidade do 
      Porto, 4200-465 Porto, Portugal. lgusmao@ipatimup.pt
FAU - Sanchez-Diz, Paula
AU  - Sanchez-Diz P
FAU - Alves, Cintia
AU  - Alves C
FAU - Beleza, Sandra
AU  - Beleza S
FAU - Lopes, Alexandra
AU  - Lopes A
FAU - Carracedo, Angel
AU  - Carracedo A
FAU - Amorim, Antonio
AU  - Amorim A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Ireland
TA  - Forensic Sci Int
JT  - Forensic science international
JID - 7902034
SB  - IM
MH  - *Chromosomes, Human, Y
MH  - DNA Fingerprinting/methods
MH  - Ethnicity/*genetics
MH  - Europe
MH  - Gene Frequency
MH  - *Genetics, Population
MH  - *Haplotypes
MH  - Humans
MH  - Random Allocation
MH  - *Tandem Repeat Sequences
EDAT- 2003/07/10 05:00
MHDA- 2003/10/10 05:00
CRDT- 2003/07/10 05:00
PHST- 2003/07/10 05:00 [pubmed]
PHST- 2003/10/10 05:00 [medline]
PHST- 2003/07/10 05:00 [entrez]
AID - S0379073803001609 [pii]
AID - 10.1016/s0379-0738(03)00160-9 [doi]
PST - ppublish
SO  - Forensic Sci Int. 2003 Jul 8;134(2-3):172-9. doi: 10.1016/s0379-0738(03)00160-9.