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Оригинален вид: Helena, the hidden beauty
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Helena, the hidden beauty: Resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample - линк към платената публикация

This study strikingly demonstrates the significance of complete  mtGenome sequencing in forensic genetic practice: highest mtDNA resolution allowed almost complete discrimination of haplotypes identical in their CR by rendering virtually every one unique in this randomly  selected sample. In the previous study that included 39 codR SNPs in addition to the CR [44], a power of discrimination of 72.9% had been reached using the same sample set, compared to 99.8% in this study (Table 1). A significant genetic diversity increase when analyzing complete mtGenomes has also been found in larger, randomly chosen population samples with a more ample haplogroup spectrum [48,49]. The two matching complete mtDNA sequences (i.e. ‘‘nonexclusion’’) signpost the current limitation of mtGenome sequencing in forensic applications: these two samples cannot be excluded as deriving from the same individual or the same maternal lineage, respectively. Sound sampling (cf. [58]) and large and reliable sequence databases [10] are necessary prerequisites for a correct
assessment of population variation to weigh such evidence. Currently, the forensic community is able to assess the probability of a given haplotype in its (putative) population by using EMPOP [22] (or other databases) in the CR range. Necessary structural and query modifications have recently been elaborated [6], and with the upcoming third version of EMPOP, a complete mtGenome database for forensic application will be accessible (cf. [6,10]). More than 20,000  (nearly-) complete worldwide mtGenome sequences are publicly available (cf. [6,15]), but for now, comprehensive high-quality investigations on randomly selected population samples are still scarce (see above) [48,49]......


линк към споделена версия
Already the small Italian sample analyzed in this study revealed 20 different sub-lineages hiding behind an identical CR sequence - ето защо на всички казваме, че от тест на ниво HVR1 & HVR2 не може да се направи извод за хаплогрупа - нещо като 12 STR при Y-хромозомата...
Това означава ли, че мутациите при мтДНА не са толкова редки събития и че може да се върнем на най-близък общ предшественик от, да речем, преди 500-700 години?
Мисля, че пълно съвпадение при FMS може да предполага толкова близко родство, особено ако има повече редки мутации. Но това е пак игра на вероятности като при STR маркерите - може да е преди няколко поколения, но може и да е преди хиляди години.