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1.
Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany 总被引:18,自引:6,他引:12
S. Lutz H.-J. Weisser J. Heizmann S. Pollak 《International journal of legal medicine》1998,111(2):67-77
In order to identify polymorphic positions and to determine their frequency in the human mitochondrial D-loop containing
region, the mitochondrial DNA (mtDNA) control region of 200 unrelated individuals from Germany were amplified and directly
sequenced. Sequence comparison led to the identification of 190 mitochondrial lineages as defined by 202 variable positions.
The most frequently occurring lineage comprised 5 individuals, whereas 186 types of D-loop sequences were observed in only
one individual. Of the sequences studied 7% are not unique but show at least one counterpart with an identical haplotype.
The majority (61%) of the control regions investigated showed between four and eight nucleotide positions deviating from the
reference sequence. The maximum number of deviations observed in a single control region was 18. The majority of the variable
positions in the D-loop region (88%) are located within three hypervariable regions. Sequence variations are caused by nucleotide
substitutions, insertions or deletions. As compared to insertions and deletions, nucleotide substitutions make up the vast
majority of the mutations (90%). We have predominantly found transitions (75%) and a significantly lower frequency of transversions
(15%) whereas insertions (6%) as well as deletions (4%) are rather rare. Upon sequencing the mitochondrial control region
from 200 German Caucasians the genetic diversity was estimated at 0.99. The probability of two randomly selected individuals
from a population having identical mtDNA types is 0.6%.
Received: 21 May 1997 / Received in revised form: 9 September 1997 相似文献
2.
The forensic application of mitochondrial DNA (mtDNA) typing requires large and regionally well-defined databases. To expand the database for forensic identification purposes in Slovenia, the mtDNA control region sequences of the hypervariable regions HVI and HVII were determined in a population of 129 maternally unrelated Slovenians, using a fluorescent-based capillary electrophoresis sequencing method. A total of 111 different haplotypes resulting from 124 polymorphic positions (80 polymorphic positions in HVI and 44 in HVII) were found. Of these, 101 mtDNA types were unique, 6 haplotypes were shared by 2 individuals, 1 haplotype by 3 individuals, 2 haplotypes by 4 individuals, and the most common haplotype was found in 5 individuals. The most frequent haplotypes in the Slovenian population ,263(G), 315.1(C) and 263(G), 309.1(C), 315.1(C) are also the most common in other European populations. The data support the concept that these haplotypes may represent a common European mtDNA sequence types. The sequence poymorphisms were compared to the databases of west Austria and central Italy and the HVI and HVII sequence matching probabilities within and between populations were calculated. It is 1.1–4.5 times more likely to find a sequence match in a random pair of Slovenians than in a random Slovenian-Italian pair and in a random Slovenian-Austrian pair. The length heteroplasmy in the homopolymeric C-stretch regions located at nucleotide positions 16184–16193 in HVI and at positions 303–315 in HVII was observed in 17% and 8% of individuals, respectively. A statistical estimate of the results for this population showed the random match probability and the genetic diversity of 1.16% and 0.996, respectively.Electronic Supplementary Material Supplementary material is available in the online version of this article at http://dx.doi.org/10.1007/s00414-003-0394-3 相似文献
3.
Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography 总被引:5,自引:0,他引:5
H. Pfeiffer B. Brinkmann J. Hühne B. Rolf A. A. Morris R. Steighner M. M. Holland P. Forster 《International journal of legal medicine》1999,112(5):291-298
Mitochondrial DNA control region sequences were determined in 109 unrelated German Caucasoid individuals from north west
Germany for both hypervariable regions 1 (HV1) and 2 (HV2) and 100 polymorphic nucleotide positions (nps) were found, 63 in
HV1 and 37 in HV2. A total of 100 different mtDNA lineages was revealed, of which 7 were shared by 2 individuals and 1 by
3 individuals. The probability of drawing a HV1 sequence match within the north west Germans or within published sets of south
Germans and west Austrians is similar (within a factor of 2) to drawing a sequence match between any two of these three population
samples. Furthermore, HV1 sequences of 700 male inhabitants of one village in Lower Saxony were generated and these showed
a nearly linear increase of the number of different haplotypes with increasing number of individuals, demonstrating that the
commonly used haplotype diversity measure (Nei 1987) for population samples tends to underestimate mtDNA diversity in the
actual population.
Received: 14 January 1999 / Accepted: 15 February 1999 相似文献
4.
A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals 总被引:5,自引:0,他引:5
Imaizumi K Parsons TJ Yoshino M Holland MM 《International journal of legal medicine》2002,116(2):68-73
A database of mitochondrial DNA (mtDNA) hypervariable region 1 (HV1) and region 2 (HV2) sequences of the mtDNA control region was established from 162 unrelated Japanese individuals. The random match probability and the genetic diversity for this database were 0.96% and 0.997, respectively. Length heteroplasmy in the C-stretch regions located around position 16189 in HV1 and 310 in HV2 was observed in 37% and 38% of the samples, respectively. A strategy using internal sequencing primers was devised to obtain confirmed sequences in these length heteroplasmic individuals. This database, combined with other mtDNA sequence databases from the Japanese population, will permit the significance of mtDNA match results to be properly reported in mtDNA typing casework in Japan.Received: 10 August 2000 / Accepted: 7 January 2001An erratum to this article can be found at 相似文献
5.
Population data for 101 Austrian Caucasian mitochondrial DNA d-loop sequences: Application of mtDNA sequence analysis to a forensic case 总被引:16,自引:10,他引:6
W. Parson T. J. Parsons R. Scheithauer M. M. Holland 《International journal of legal medicine》1998,111(3):124-132
The sequence of the two hypervariable segments of the mitochondrial DNA (mtDNA) control region was generated for 101 random
Austrian Caucasians. A total of 86 different mtDNA sequences was observed, where 11 sequences were shared by more than 1 individual,
7 sequences were shared by 2 individuals and 4 sequences were shared by 3 individuals. One of the four most common mtDNA sequences
in Austrians is also the most common sequence in both U.S. and British Caucasians, found in approximately 3.0% of Austrians,
4.0% of British, and 3.9% of U.S. Caucasians. Of the remaining three common Austrian sequences, one was not observed in either
U.S. or British Caucasians. However, three British Caucasians exhibited a similar sequence type. Therefore, this particular
cluster of sequence polymorphisms may represent a common “European” mtDNA sequence type. In general, Austrian Caucasians show
little deviation from other Caucasian databases of European descent. Finally, mtDNA sequence analysis was applied to a forensic
case, where hairs found at a crime scene matched the control hairs from the suspect.
Received: 30 June 1997 / Received in revised form: 12 November 1997 相似文献
6.
Dragana Zgonjanin Igor Veselinović Milovan Kubat Ivana Furač Mirjana Antov Eva Lončar Miloš Tasić Radenko Vuković Radovan Omorjan 《Legal medicine (Tokyo, Japan)》2010,12(2):104-107
In order to generate and establish the database for forensic identification purposes in Vojvodina Province (Serbia), the sequence of the hypervariable regions 1 (HV1) and 2 (HV2) of the mtDNA control region were determined in a population of 104 unrelated individuals from Vojvodina Province, using a fluorescent-based capillary electrophoresis sequencing method. A total of 93 different haplotypes were found, of these 83 mtDNA types were unique, nine haplotypes were shared by two individuals and one haplotype by three individuals. The variation of mtDNA HV1 and HV2 regions was confined to 116 nucleotide positions, of which 72 were observed in the HV1 and 44 in the HV2. A statistical estimate of the results for this population showed the genetic diversity of 0.9977 and the random match probability of 1.18%. Haplogroup H was the most common haplogroup (43.3%). Haplogroups observed at intermediate levels included clusters U (13.5%), T (10.6%), J (8.6%) and W (5.8%). 相似文献
7.
Dimo-Simonin N Grange F Taroni F Brandt-Casadevall C Mangin P 《International journal of legal medicine》2000,113(2):89-97
The polymorphism of the two hypervariable segments (HVI and HVII) of the control region of mtDNA was analyzed in a population of 154 unrelated individuals from south west Switzerland using a fluorescent based capillary electrophoresis sequencing method. In our population data of 154 random individuals, 137 mtDNA types were observed. Of these, 124 sequences were observed only in one individual whereas 10 sequences were observed in 2 individuals, 2 sequences in 3 individuals and 1 sequence in 4 individuals. The probability of two unrelated individuals having the same sequence was 0.84%. The results were compared with four other Caucasian populations. Furthermore, the usefulness of the mtDNA sequencing was tested, for exclusion and inclusion, in 18 forensic cases including 69 evidence samples and 44 reference samples. Despite the fact that 55% of the evidence samples yielded a negative result for the nuclear DNA with the human dot quantitation system, the success rate of the mtDNA sequencing was 71.0%. This validation study proves the great usefulness and sensitivity of the mtDNA sequencing technique using nested PCR and fluorescent capillary electrophoresis. 相似文献
8.
Alvarez JC Johnson DL Lorente JA Martinez-Espin E Martinez-Gonzalez LJ Allard M Wilson MR Budowle B 《Legal medicine (Tokyo, Japan)》2007,9(6):293-304
Population data on the hypervariable regions of the mitochondrial DNA (mtDNA) genome are used to convey the relative rarity of mtDNA profiles obtained from evidence samples and of profiles used to identify missing persons. In this study, mtDNA profiles of Spanish individuals (n=312) were analyzed to describe haplogroup distributions and to determine relevant single nucleotide polymorphisms (SNPs) of those haplogroups. All nine common European haplogroups were observed in the sample, and these were divided into subgroups when possible. Haplogroup H was the most common haplogroup. The haplogroups U, J, T, and V were the next most frequent groups, each occurring at a frequency of 6.4% or greater. In addition, African and Asian sequences were present though rare in the samples. The data were compared with and found to be similar to other published data sets. There were 109 SNPs observed in the data set, including 10 positions not previously reported. The most variable sites are consistent with other studies. 相似文献
9.
Wittig H Aschenbrenner A Poetsch M Krause D Lignitz E 《Legal medicine (Tokyo, Japan)》2003,5(Z1):S173-S176
Over the past decade investigations of human mitochondrial DNA (mtDNA) have considerably contributed to our knowledge about human evolution and migration. The genome of the Icelandic population is of special interest since Iceland has been genetically isolated for centuries. The sequence of the hypervariable regions HVS-I and HVS-II of the mtDNA control region was generated for 100 Icelandic individuals. A total of 75 different mtDNA sequences were observed, of which 19 sequences were shared by more than one individual, 16 sequences were shared by two individuals and two sequences were shared by three individuals; the most frequent haplotype (16129 A, 16239 T, 00263 G and 00315.1 C) was found six times. Both the genetic diversity (0.9925+/-0.0031) and the average number of pairwise nucleotide differences (7.371) were comparable with most of the other European populations. However, we found a smaller number of distinct mitochondrial lineages, suggesting that founder effects and genetic drift may have exerted a visible influence on the Icelandic genetic diversity. We compared these data with 1400 other European sequences from the D-Loop-BASE database. The paper discusses the evolutionary relationship between Icelandic and Central European mtDNA under due consideration of the historical context. Finally, our study has been aimed at increasing the number of mtDNA sequences available throughout the world and contributing to human genome investigations. 相似文献
10.
An annotated mtDNA database 总被引:8,自引:0,他引:8
We have compiled a database of mitochondrial DNA (mtDNA) control region, hypervariable regions 1 (HVR1) and 2 (HVR2) sequences
of a total of 14,138 individuals compiled from 103 mtDNA publications before 1 January 2000, 13 data sets published in 2000
and 2001 and 2 unpublished data sets of Iraqi Kurds and Indians from Kerala. By contacting the authors and by other means,
we have confirmed and corrected sequence errors, eliminated duplications and harmonised the sequence format. These changes
affected all but 26 of the 116 publications. Furthermore, we have implemented a geographic information system (“mtradius”)
which searches for closest matches to a given mtDNA control region sequence and displays them on a geographic map. A potential
application is to estimate a chance matching probability when a forensic stain and a suspect have an identical mtDNA sequence:
we suggest that the geographic area with the highest frequency of closely related mtDNA sequence types may be used to define
a reference population to give the suspect the maximum benefit of doubt in accordance with the ceiling principle.
Received: 14 August 2000 / Accepted: 22 December 2000 相似文献
11.
In order to identify polymorphic sites and to find out their frequencies and the frequency of haplotypes, the complete D-loop of mitochondrial DNA (mtDNA) from 93 unrelated Czech Caucasians was sequenced. Sequence comparison showed that 85 haplotypes were found and of these 78 were unique, 6 were observed twice and 1 was observed three times. Genetic diversity (GD) was estimated at 0.999 and the probability of two randomly selected sequences matching (random match probability, RMP) at 1.2%. Additionally these calculations were carried out for hypervariable regions 1, 2 (HV1, HV2), for the area between HV1 and HV2 and for the area of the hypervariable region HV3. The average number of nucleotide differences (ANND) was established to be 10.2 for the complete D-loop. The majority of sequence variations were substitutions, particularly transitions. Deletions were found only in the region where HV3 is situated and insertions in the same place and in poly-C tracts between positions 303 and 315 in HV2. A high degree of length heteroplasmy was found especially in the regions of poly-C tracts between positions 16184 and 16193 in HV1 and between positions 303 and 315 in HV2. Position heteroplasmies were found in two cases.Electronic Supplementary Material Supplementary material is available in the online version of this article at http://dx.doi.org/10.1007/s00414-003-0407-2 相似文献
12.
HVI and HVII mitochondrial DNA data in Apaches and Navajos 总被引:4,自引:4,他引:0
Budowle B Allard MW Fisher CL Isenberg AR Monson KL Stewart JE Wilson MR Miller KW 《International journal of legal medicine》2002,116(4):212-215
Most mtDNA studies on Native Americans have concentrated on hypervariable region I (HVI) sequence data. Mitochondrial DNA haplotype data from hypervariable regions I and II (HVI and HVII) have been compiled from Apaches (N=180) and Navajos (N=146). The inclusion of HVII data increases the amount of information that can be obtained from low diversity population groups. Less mtDNA variation was observed in the Apaches and Navajos than in major population groups. The majority of the mtDNA sequences were observed more than once; only 17.8% (32/180) of the Apache sequences and 25.8% of the Navajo sequences were observed once. Most of the haplotypes in Apaches and Navajos fall into the A and B haplogroups. Although a limited number of haplogroups were observed, both sample populations exhibit sufficient variation for forensic mtDNA typing. Genetic diversity was 0.930 in the Apache sample and 0.963 in the Navajo sample. The random match probability was 7.48% in the Apache sample and 4.40% in the Navajo sample. The average number of nucleotide differences between individuals in a database is 9.0 in the Navajo sample and 7.7 in the Apache sample. The data demonstrate that mtDNA sequencing can be informative in forensic cases where Native American population data are used. 相似文献
13.
Sequence polymorphisms of the hypervariable mitochondrial DNA (mtDNA) regions HVI and HVII, and coding region polymorphisms were investigated in 211 unrelated individuals from the Japanese population. Sequence comparison of the HVI and HVII regions led to the identification of 169 mitochondrial haplotypes defined by 147 variable positions. Among them 145 types were observed in only 1 individual; the other 24 types were shared by 2 or more individuals. The gene diversity was estimated at 0.9961, and the probability of two randomly selected individuals from the population having identical mtDNA types was 0.86%. We also established phylogenetic haplogroups in the Japanese population based on the coding and control region polymorphisms and compared the haplotypes with those in other Japanese, Korean and Chinese populations. As a result, three new subhaplogroups, G4a, G4b, and N9b, and several haplotypes specific for the Japanese and Korean populations were identified. The present database can be used not only for personal identification but also as an aid for geographic or phenotype (race) estimation in forensic casework in Japan.Electronic Supplementary Material Supplementary material is available for this article if you access the article at 相似文献
14.
Mostafa Ali Elmadawy Atsushi Nagai Ghada M. Gomaa Hanaa M.R. Hegazy Fawzy Eid Shaaban Yasuo Bunai 《Legal medicine (Tokyo, Japan)》2013,15(6):338-341
The sequences of mitochondrial DNA (mtDNA) control region were investigated in 101 unrelated individuals living in the northern region of Nile delta (Gharbia, N = 55 and Kafrelsheikh, N = 46). DNA was extracted from blood stained filter papers or buccal swabs. HV1, HV2 and HV3 were PCR amplified and sequenced; the resulted sequences were aligned and compared with revised Cambridge sequence (rCRS). The results revealed presence of total 93 different haplotypes, 86 of them are unique and 7 are shared haplotypes, the most common haplotype, was observed with a frequency, 2.97% of population sample. High mtDNA diversity was observed with genetic diversity and power of discrimination, 0.9982 and 0.9883, respectively. In this dataset the west Eurasian haplogroups predominated over the African haplogroups. The results would be useful for forensic examinations and human genetic studies. 相似文献
15.
《Forensic science international. Genetics》2009,3(4):e53-e59
In order to identify polymorphic positions and to determine their frequencies and the frequency of haplotypes in the human mitochondrial control region, two hypervariable regions (HV1 and HV2) of the mitochondrial DNA (mtDNA) of 374 unrelated individuals from Slovakia were amplified and sequenced. Sequence comparison led to the identification of 284 mitochondrial lineages as defined by 163 variable sites. Genetic diversity (GD) was estimated at 0.997 and the probability of two randomly selected individuals from population having identical mtDNA types (random match probability, RMP) for the both regions is 0.60%. 相似文献
16.
H. Pfeiffer J. Hühne C. Ortmann K. Waterkamp B. Brinkmann 《International journal of legal medicine》1999,112(5):287-290
The analysis of mitochondrial DNA (mtDNA) from shed hairs has gained high importance in forensic casework since telogen hairs
are one of the most common types of evidence left at the crime scene. In this systematic study of hair shafts from 20 individuals,
the correlation of mtDNA recovery with hair morphology (length, diameter, volume, colour), with sex, and with body localisation
(head, armpit, pubis) was investigated. The highest average success rate of hypervariable region 1 (HV 1) sequencing was found
in head hair shafts (75%) followed by pubic (66%) and axillary hair shafts (52%). No statistically significant correlation
between morphological parameters or sex and the success rate of sequencing was found. MtDNA sequences of buccal cells, head,
pubic and axillary hair shafts did not show intraindividual differences. Heteroplasmic base positions were observed neither
in the hair shafts nor in control samples of buccal cells.
Received: 18 January 1999 / Accepted: 15 February 1999 相似文献
17.
Irwin J Egyed B Saunier J Szamosi G O'Callaghan J Padar Z Parsons TJ 《International journal of legal medicine》2007,121(5):377-383
To facilitate forensic mtDNA testing in Hungary, we have generated control region databases for two Hungarian populations:
211 individuals were sampled from the urban Budapest population and 208 individuals were sampled from a Romani (“gypsy”) population
in Baranya county. Sequences were generated using a highly redundant approach to minimize potential database errors. The Budapest
population had high sequence diversity with 180 lineages, 183 polymorphic positions, and a random match probability of 1%.
In contrast, the Romani population exhibited low sequence diversity, with only 56 lineages, 109 segregating sites, and a random
match probability of 8.8%. The mtDNA haplogroup compositions of the two populations were also distinct, with the large proportion
of haplogroup M samples (35%) in the Roma the most obvious difference between the two populations. These factors highlight
the importance of considering population structure when generating reference databases for forensic testing purposes. Comparisons
between our Romani population sample and other published data indicate the need for heightened caution when sampling and using
mtDNA databases of small endogamous populations. The Romani populations that we compared showed significant departures from
genetic uniformity.
Electronic supplementary material Supplementary material is available in the online version of this article at and is accessible for authorized users. 相似文献
18.
Sequence polymorphisms of the hypervariable region HV1 in mitochondrial DNA (mtDNA) were analyzed in a sample of 137 unrelated Japanese individuals living in Gifu Prefecture (central region of Japan) using polymerase chain reaction amplification and direct sequencing. Eighty-two different haplotypes resulting from 81 variable sites were found in the mtDNA HV1 region between positions 16061 and 16450. The most frequent haplotype (16223T, 16362C) was shared by ten individuals. The genetic diversity and the genetic identity were 0.985 and 0.022, respectively. The C-stretch region located around position 16189 was observed in 23.4% of this population sample. Sequence heteroplasmy at the position 16103 (A/G) was found in one individual. 相似文献
19.
The high population frequencies of three control region haplotypes contribute to the low discrimination power of the dog mtDNA control region. It also diminishes the evidential power of a match with one of these haplotypes in forensic casework. A mitochondrial genome study of 214 Belgian dogs suggested 26 polymorphic coding region sites that successfully resolved dogs with the three most frequent control region haplotypes.In this study, three SNP assays were developed to determine the identity of the 26 informative sites. The control region of 132 newly sampled dogs was sequenced and added to the study of 214 dogs. The assays were applied to 58 dogs of the haplotypes of interest, which confirmed their suitability for enhancing dog mtDNA discrimination power. In the Belgian population study of 346 dogs, the set of 26 sites divided the dogs into 25 clusters of mtGenome sequences with substantially lower population frequency estimates than their control region sequences. In case of a match with one of the three control region haplotypes, using these three SNP assays in conjunction with control region sequencing would augment the exclusion probability of dog mtDNA analysis from 92.9% to 97.0%. 相似文献
20.
Sequence polymorphisms of mtDNA HV1, HV2 and HV3 regions in eight population groups living in Taiwan
Hsiao-Lin Hwa Tsang-Ming Ko Yen-Ching Chen Chun-Yen Lin Yu-Hsuan Huang Li-Hui Tseng 《The Australian journal of forensic sciences》2013,45(3):243-252
Analysis of human mitochondrial DNA (mtDNA) polymorphisms in the D-loop region has become a useful tool in forensic casework and matrilineal origin research. In this study, the mtDNA D-loop region including hypervariable region 1 (HV1), hypervariable region 2 (HV2), segment between HV1 and HV2 (7S DNA spanned region), and extended hypervariable region 3 (HV3ex) was sequenced in 539 unrelated individuals from eight population groups living in Taiwan. Combined analyses of the complete D-loop revealed a total of 383 haplotypes with 319 unique haplotypes. The probability of any two individuals sharing the same mtDNA haplotype decreased as the combination of control region segments extended and reached 0.48% with the combination of a complete D-loop region. Sequence variants in HV3ex can further discriminate the haplotypes in some population groups. Phylogenetic haplogroups of these subjects were analyzed. The multidimensional scaling plots of these population groups, constructed based on sequence of the complete D-loop, demonstrated a clear matrilineal genetic substructure in this area. In conclusion, this database of mtDNA complete D-loop sequence including HV3 can serve as a reference for forensic identification. Sequence polymorphisms of the D-loop located outside the HV1 and HV2 may be helpful in further haplogroup characterization. 相似文献