1 research outputs found
ΠΠ°ΡΠΈΠ°ΡΠΈΡ ΠΏΠΈΠ³ΠΌΠ΅Π½ΡΠ°ΡΠΈΠΈ ΡΠ°Π΄ΡΠΆΠΊΠΈ Π³Π»Π°Π· Π±Π΅Π»ΠΎΡΡΡΡΠΊΠΎΠΉ ΠΏΠΎΠΏΡΠ»ΡΡΠΈΠΈ Π² ΡΠ²ΡΠ·ΠΈ Ρ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠΎΠΌ Π³Π΅Π½ΠΎΠ² HERC2 ΠΈ OCA2
The human genetic phenotyping is one of the most intensely developing area of forensic genetics. Externally visible traits, including eye color, can be predicted by analyzing single nucleotide polymorphisms with a high predictive rate. We studied the polymorphisms rs12913832 and rs1800407 in the HERC2 and OCA2 genes, respectively, to evaluate its prognostic availability in relation to the iris pigmentation of the Belarusian population. For this, both eye images and DNA samples were collected from 314 individuals to analyze the key polymorphisms by the TaqMan assay. Our data confirmed a relevance of rs12913832:A>G and rs1800407:G>A in the prediction context. The highest values of the sensitivity (SE = 0.94) and the specificity (SP = 0.90) were obtained for rs12913832, demonstrating the high efficiency of this marker as a classifier of phenotypic groups. The presence of the ancestral dominant allele rs12913832-A causes a dark (brown) iris pigmentation, how- ever, the heterozygous state rs12913832:GA includes a range of mixed variants. The predictive value of rs1800407 for the genetic phenotyping is highly significant (SE = 0.98), but has a low specificity (SP = 0.14), thus rs1800407, not being an effective classifier, can be used as an auxiliary in the eye color predictive model. The analysis of a cumulative impact of the both poly- morphisms on the iris color variation shows their high prospects for the genetic phenotyping of the Belarusian population.ΠΠ΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΡΠ΅Π½ΠΎΡΠΈΠΏΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ ΡΠ΅Π»ΠΎΠ²Π΅ΠΊΠ° β Π½ΠΎΠ²ΠΎΠ΅, ΠΈΠ½ΡΠ΅Π½ΡΠΈΠ²Π½ΠΎ ΡΠ°Π·Π²ΠΈΠ²Π°ΡΡΠ΅Π΅ΡΡ Π½Π°ΠΏΡΠ°Π²Π»Π΅Π½ΠΈΠ΅ ΠΊΡΠΈΠΌΠΈΠ½Π°Π»ΠΈΡΡΠΈΡΠ΅ΡΠΊΠΎΠΉ Π³Π΅Π½Π΅ΡΠΈΠΊΠΈ. ΠΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΎΡΠ½ΠΎΠ² ΡΠ²Π΅ΡΠΎΠ²ΠΎΠΉ Π²Π°ΡΠΈΠ°ΡΠΈΠΈ Π³Π»Π°Π· ΡΠ²Π»ΡΠ΅ΡΡΡ ΠΎΠ΄Π½ΠΈΠΌ ΠΈΠ· Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΠΏΠ΅ΡΡΠΏΠ΅ΠΊΡΠΈΠ²Π½ΡΡ
ΡΡΠ΅Π΄ΠΈ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄ΠΎΠ², Π½Π°ΡΠ΅Π»Π΅Π½Π½ΡΡ
Π½Π° ΡΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½ΠΈΠ΅ ΠΎΠ±Π»ΠΈΠΊΠ° Π½Π΅ΠΈΠ·Π²Π΅ΡΡΠ½ΠΎΠ³ΠΎ ΠΈΠ½Π΄ΠΈΠ²ΠΈΠ΄Π° ΠΏΠΎ Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΡΡΠΈΠΊΠ°ΠΌ Π΅Π³ΠΎ ΠΠΠ. Π Π΄Π°Π½Π½ΠΎΠΉ ΡΠ°Π±ΠΎΡΠ΅ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ΠΎ ΠΈΠ·ΡΡΠ΅Π½ΠΈΠ΅ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠΎΠ² rs12913832 ΠΈ rs1800407 Π² Π³Π΅Π½Π°Ρ
HERC2 ΠΈ ΠΠ‘A2 ΡΠΎΠΎΡΠ²Π΅ΡΡΡΠ²Π΅Π½Π½ΠΎ Π² ΡΠ²ΡΠ·ΠΈ Ρ ΠΏΠΈΠ³ΠΌΠ΅Π½ΡΠ°ΡΠΈΠ΅ΠΉ ΡΠ°Π΄ΡΠΆΠΊΠΈ Π³Π»Π°Π· Π±Π΅Π»ΠΎΡΡΡΡΠΊΠΎΠΉ ΠΏΠΎΠΏΡΠ»ΡΡΠΈΠΈ ΠΈ Π΄Π°Π½Π° ΠΎΡΠ΅Π½ΠΊΠ° ΠΈΡ
ΠΏΡΠΎΠ³Π½ΠΎΡΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΠΈ Π΄Π»Ρ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠ΅Π½ΠΎΡΠΈΠΏΠΈΡΠΎΠ²Π°Π½ΠΈΡ. ΠΠΎΠ»ΡΡΠ΅Π½Π½ΡΠ΅ Π΄Π°Π½Π½ΡΠ΅ ΠΏΠΎΠ΄ΡΠ²Π΅ΡΠ΄ΠΈΠ»ΠΈ Π·Π½Π°ΡΠΈΠΌΡΠΉ Π²ΠΊΠ»Π°Π΄ Π² ΡΠ²Π΅ΡΠΎΠ²ΡΡ Π²Π°ΡΠΈΠ°ΡΠΈΡ ΡΠ°Π΄ΡΠΆΠΊΠΈ Π³Π»Π°Π· rs12913832:A>G ΠΈ rs1800407:G>A. ΠΡΡΠΎΠΊΠΈΠ΅ Π·Π½Π°ΡΠ΅Π½ΠΈΡ ΡΡΠ²ΡΡΠ²ΠΈΡΠ΅Π»ΡΠ½ΠΎΡΡΠΈ (SE = 0,94) ΠΈ ΡΠΏΠ΅ΡΠΈΡΠΈΡΠ½ΠΎΡΡΠΈ (SP = 0,90) Π±ΡΠ»ΠΈ ΠΏΠΎΠ»ΡΡΠ΅Π½Ρ Π΄Π»Ρ rs12913832, ΠΏΠΎΠ΄ΡΠ²Π΅ΡΠ΄ΠΈΠ² ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΡ Π΄Π°Π½Π½ΠΎΠ³ΠΎ ΠΌΠ°ΡΠΊΠ΅ΡΠ° Π΄Π»Ρ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΡ Π² ΠΊΠ°ΡΠ΅ΡΡΠ²Π΅ ΠΊΠ»Π°ΡΡΠΈΡΠΈΠΊΠ°ΡΠΎΡΠ° ΡΠ΅Π½ΠΎΡΠΈΠΏΠΈΡΠ΅ΡΠΊΠΈΡ
Π³ΡΡΠΏΠΏ. ΠΠ°Π»ΠΈΡΠΈΠ΅ ΠΏΡΠ΅Π΄ΠΊΠΎΠ²ΠΎΠ³ΠΎ Π΄ΠΎΠΌΠΈΠ½Π°Π½ΡΠ½ΠΎΠ³ΠΎ Π°Π»Π»Π΅Π»Ρ rs12913832-A ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»ΠΈΠ²Π°Π΅Ρ ΡΠ΅ΠΌΠ½ΡΡ ΠΏΠΈΠ³ΠΌΠ΅Π½ΡΠ°ΡΠΈΡ ΡΠ°Π΄ΡΠΆΠΊΠΈ, ΠΎΠ΄Π½Π°ΠΊΠΎ Π³Π΅ΡΠ΅ΡΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΠΎΠ΅ Π½ΠΎΡΠΈΡΠ΅Π»ΡΡΡΠ²ΠΎ rs12913832:GA Π²ΠΊΠ»ΡΡΠ°Π΅Ρ Π·Π½Π°ΡΠΈΡΠ΅Π»ΡΠ½ΡΠΉ ΡΠΏΠ΅ΠΊΡΡ ΡΠΌΠ΅ΡΠ°Π½Π½ΡΡ
Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ². ΠΠ΄Π½ΠΎΠ½ΡΠΊΠ»Π΅ΠΎΡΠΈΠ΄Π½ΡΠΉ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌ rs1800407 Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΠ·ΡΠ΅ΡΡΡ Π²ΡΡΠΎΠΊΠΎΠΉ ΡΡΠ²ΡΡΠ²ΠΈΡΠ΅Π»ΡΠ½ΠΎΡΡΡΡ (SE = 0,98), ΠΎΠ΄Π½Π°ΠΊΠΎ ΠΈΠΌΠ΅Π΅Ρ Π½ΠΈΠ·ΠΊΠΎΠ΅ Π·Π½Π°ΡΠ΅Π½ΠΈΠ΅ ΡΠΏΠ΅ΡΠΈΡΠΈΡΠ½ΠΎΡΡΠΈ (SP = 0,14), ΡΠ»Π΅Π΄ΠΎΠ²Π°ΡΠ΅Π»ΡΠ½ΠΎ, Π΄Π°Π½Π½ΡΠΉ ΠΌΠ°ΡΠΊΠ΅Ρ, Π½Π΅ ΡΠ²Π»ΡΡΡΡ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΡΠΌ ΠΊΠ»Π°ΡΡΠΈΡΠΈΠΊΠ°ΡΠΎΡΠΎΠΌ, ΠΌΠΎΠΆΠ΅Ρ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°ΡΡΡΡ ΡΠΎΠ»ΡΠΊΠΎ ΠΊΠ°ΠΊ Π²ΡΠΏΠΎΠΌΠΎΠ³Π°ΡΠ΅Π»ΡΠ½ΡΠΉ ΠΈΠ½ΡΡΡΡΠΌΠ΅Π½Ρ Π΄Π»Ρ ΠΏΡΠ΅Π΄ΡΠΊΠ°Π·Π°Π½ΠΈΡ ΡΠ²Π΅ΡΠ° Π³Π»Π°Π·. ΠΡΠ΅Π½ΠΊΠ° ΡΠΎΠ²ΠΎΠΊΡΠΏΠ½ΠΎΠ³ΠΎ Π²ΠΊΠ»Π°Π΄Π° ΠΈΠ·ΡΡΠ΅Π½Π½ΡΡ
ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠΎΠ² Π² ΡΠ²Π΅ΡΠΎΠ²ΡΡ Π²Π°ΡΠΈΠ°ΡΠΈΡ ΡΠ°Π΄ΡΠΆΠΊΠΈ Π³Π»Π°Π· Π±Π΅Π»ΠΎΡΡΡΡΠΊΠΎΠΉ ΠΏΠΎΠΏΡΠ»ΡΡΠΈΠΈ ΠΏΠΎΠΊΠ°Π·ΡΠ²Π°Π΅Ρ ΠΈΡ
Π²ΡΡΠΎΠΊΠΈΠΉ ΠΏΡΠΎΠ³Π½ΠΎΡΡΠΈΡΠ΅ΡΠΊΠΈΠΉ ΠΏΠΎΡΠ΅Π½ΡΠΈΠ°Π» Π΄Π»Ρ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠ΅Π½ΠΎΡΠΈΠΏΠΈΡΠΎΠ²Π°Π½ΠΈΡ