Author/Editor     Lovrecic, Luca; Peterlin, Borut
Title     Pomen raziskav na kromosomu Y
Translated title     Importance of Y chromosome research
Type     članek
Source     In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year     2005
Volume     str. 19-27
Language     slo
Abstract     The human Y chromosome is approximately 60 Mb in length and represents only 2% of the whole human genome. The availability of the chromosome sequence, many new polymorphisms, a highly resolved phylogeny and some insights into its mutation processes, now provide new ways for investigating it, with interest being mainly in human evolution, paternity testing and for forensic purposes. The properties of Y chromosome read like a list of violations of the rulebook of human genetics-it is not essential for the life of an individual, most of it does not recombine, onehalf consists of tandemly repeated satellite DNA and the rest carries few genes. But on the contrary, it is because of this disregard for the rules that the Y chromosome is such a superb tool for investigating recent human evolution from a male perspective and has specialized, but important, roles in medical and forensic genetics. Forensic DNA evidence was first used in the US court system in 1986. An effective way to utilize DNA for forensic purposes is to store DNA profiles in a database, which facilitates sharing the information between different forensic laboratories. The first national forensic DNA database containing short tandem repeats (STR) data was established in the United Kingdom in 1995, other European countries followed. STRs of Y chromosome are particularly useful in forensic applications because female cells, often present in sexual assault samples, do not interfere with analysis. Also, since male specific part of Y chromosome does not undergo recombination, it has some inherent advantages, such as straightforward construction of individual haplotypes, single paternal ancestry and easy estimation of the timing of branching events in phylogenetic trees using calibrated mutation rates. These properties make the interpretation of human genetic histories less complex than that deduced from the analysis of autosomal chromosomes.
Descriptors     Y CHROMOSOME
BASE SEQUENCE
DNA FINGERPRINTING
FORENSIC MEDICINE
POLYMORPHISM (GENETICS)
MICROSATELLITE REPEATS