Mitochondrial DNA sequences for 118 individuals from northeastern Spain

被引:58
作者
Crespillo, M [1 ]
Luque, JA [1 ]
Paredes, M [1 ]
Fernández, R [1 ]
Ramírez, E [1 ]
Valverde, JL [1 ]
机构
[1] Minist Justicia Barcelona, Inst Nacl Toxicol, Secc Biol, Barcelona 08002, Spain
关键词
mitochondrial DNA; polymerase chain reaction; forensic DNA typing; population study; automatic sequencing;
D O I
10.1007/s004140000158
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
A population database was generated from 118 unrelated Caucasoid individuals living in Spain. Sequence polymorphisms of the mitochondrial DNA (mtDNA) control region, hypervariable regions I and II (HVRI and HVRII) were determined using the polymerase chain reaction (PCR) and direct sequencing. A total of 102 different sequences were found as defined by 105 variable positions. The most common sequence occurred six times, and this sequence is also the most frequent in other European populations such as Austria, Germany and Britain. The mean pair-wise difference for the two HVR regions taken together was 7.74. The study revealed that transitions made up the majority of the variations (88%), whereas we observed a significantly lower frequency of transversions (8%). Also one individual in this study was observed with two positions of heteroplasmy at nucleotides 150 (C/T) and 153 (G/A). A statistical estimate of the results for this population showed a genetic diversity of 0.99. The probability of two random individuals showing identical mtDNA haplotypes is 1.3%. In order to use the mtDNA analysis in forensic casework, we consider that it is of crucial importance to know the frequency of the different sequences of mtDNA, and this data base study could be a useful tool to statistically evaluate the results.
引用
收藏
页码:130 / 132
页数:3
相关论文
共 17 条
  • [1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME
    ANDERSON, S
    BANKIER, AT
    BARRELL, BG
    DEBRUIJN, MHL
    COULSON, AR
    DROUIN, J
    EPERON, IC
    NIERLICH, DP
    ROE, BA
    SANGER, F
    SCHREIER, PH
    SMITH, AJH
    STADEN, R
    YOUNG, IG
    [J]. NATURE, 1981, 290 (5806) : 457 - 465
  • [2] [Anonymous], FORENSIC SCI REV
  • [3] AQUADRO CF, 1983, GENETICS, V103, P287
  • [4] BENDALL KE, 1995, AM J HUM GENET, V57, P248
  • [5] HOLLAND MM, 1993, J FORENSIC SCI, V38, P542
  • [6] DNA typing from human faeces
    Hopwood, AJ
    Mannucci, A
    Sullivan, KM
    [J]. INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1996, 108 (05) : 237 - 243
  • [7] Heteroplasmic substitutions in the mitochondrial DNA control region in mother and child samples
    Hühne, J
    Pfeiffer, H
    Brinkmann, B
    [J]. INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1998, 112 (01) : 27 - 30
  • [8] Population data for 101 Austrian Caucasian mitochondrial DNA d-loop sequences: Application of mtDNA sequence analysis to a forensic case
    Parson, W
    Parsons, TJ
    Scheithauer, R
    Holland, MM
    [J]. INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1998, 111 (03) : 124 - 132
  • [9] THE APPLICATION OF MITOCHONDRIAL-DNA TYPING TO THE STUDY OF WHITE CAUCASIAN GENETIC IDENTIFICATION
    PIERCY, R
    SULLIVAN, KM
    BENSON, N
    GILL, P
    [J]. INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1993, 106 (02) : 85 - 90
  • [10] MITOCHONDRIAL-DNA MOLECULES AND VIRTUAL NUMBER OF MITOCHONDRIA PER CELL IN MAMMALIAN-CELLS
    ROBIN, ED
    WONG, R
    [J]. JOURNAL OF CELLULAR PHYSIOLOGY, 1988, 136 (03) : 507 - 513