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ɍȾɄ 616.717.4-007:576.316
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9
9
Ɇɟɞɢɤɨ-ɝɟɧɟɬɢɱɧɢɣ ɰɟɧɬɪ ɇɚɰɿɨɧɚɥɶɧɨʀ ɞɢɬɹɱɨʀ ɫɩɟɰɿɚɥɿɡɨɜɚɧɨʀ ɥɿɤɚɪɧɿ «ɈɏɆȺɌȾɂɌ»ɆɈɁ ɍɤɪɚʀɧɢ
ɜɭɥ.ɑɨɪɧɨɜɨɥɚ 28/1, Ʉɢʀɜ, 01135, ɍɤɪɚʀɧɚ
Medical Genetics Center of the National Children’s Hospital "Ohmatdyt" of Ministry of Health of Ukraine
Chornovola str., 28/1, Ʉyiv, 01135, Ukraine e-mail: [email protected]
Ʉɥɸɱɨɜɿ ɫɥɨɜɚ:ɦɨɧɨɫɨɦɿɹ ɤɨɪɨɬɤɨɝɨ ɩɥɟɱɚ ɯɪɨɦɨɫɨɦɢ 9, ɬɪɢɝɨɧɨɰɟɮɚɥɿɹ
Key worlds: monosomy of chromosome 9, trigonocephaly
Ɋɟɮɟɪɚɬ. Ɋɟɞɤɢɟ ɡɚɛɨɥɟɜɚɧɢɹ ɱɟɥɨɜɟɤɚ:ɦɨɧɨɫɨɦɢɹ ɤɨɪɨɬɤɨɝɨ ɩɥɟɱɚ ɯɪɨɦɨɫɨɦɵ 9. Ƚɚɥɚɝɚɧ ȼ.Ⱥ. Ɂɚɞɚɱɚ
ɢɫɫɥɟɞɨɜɚɧɢɹ ɫɨɫɬɨɹɥɚ ɜ ɚɧɚɥɢɡɟ ɚɧɚɦɧɟɡɚ, ɮɟɧɨ- ɢ ɝɟɧɨɬɢɩɚ ɭ ɩɚɰɢɟɧɬɨɜ ɫ ɬɚɤɨɣ ɪɟɞɤɨɣ ɩɚɬɨɥɨɝɢɟɣ ɤɚɤ
ɦɨɧɨɫɨɦɢɹ ɤɨɪɨɬɤɨɝɨ ɩɥɟɱɚ ɯɪɨɦɨɫɨɦɵ 9. ɂɫɩɨɥɶɡɨɜɚɧɵ ɤɚɤ ɝɟɧɟɬɢɱɟɫɤɢɟ (ɤɥɢɧɢɤɨ-ɝɟɧɟɚɥɨɝɢɱɟɫɤɢɣ, ɰɢɬɨ
-ɝɟɧɟɬɢɱɟɫɤɢɣ, FISH-ɦɟɬɨɞ), ɬɚɤ ɢ ɩɚɪɚɤɥɢɧɢɱɟɫɤɢɟ ɢ ɢɧɫɬɪɭɦɟɧɬɚɥɶɧɵɟ ɦɟɬɨɞɵ ɨɛɫɥɟɞɨɜɚɧɢɹ. Ʉɚɪɢɨɬɢ
-ɩɢɪɨɜɚɧɢɟ ɩɪɨɜɨɞɢɥɢ ɩɨ ɫɬɚɧɞɚɪɬɧɨɣ ɦɟɬɨɞɢɤɟ (G-ɦɟɬɨɞ ɞɢɮɮɟɪɟɧɰɢɪɨɜɚɧɧɨɣ ɨɤɪɚɫɤɢ ɯɪɨɦɨɫɨɦ). Ɂɚ 10
ɩɨɫɥɟɞɧɢɯ ɥɟɬ ɪɚɛɨɬɵ ɆȽɐ ɛɵɥɨ ɞɢɚɝɧɨɫɬɢɪɨɜɚɧɨ ɜɫɟɝɨ ɬɪɢ ɫɥɭɱɚɹ ɩɚɬɨɥɨɝɢɢ.ɉɨ ɞɚɧɧɵɦ ɚɧɚɦɧɟɡɚ ɧɢɤɬɨ ɜ
ɪɨɞɨɫɥɨɜɧɨɣ,ɤɨɬɨɪɚɹ ɛɵɥɚ ɩɪɟɞɫɬɚɜɥɟɧɚ ɬɪɟɦɹ ɩɨɤɨɥɟɧɢɹɦɢ,ɧɟ ɢɦɟɥ ɜɪɟɞɧɵɯ ɩɪɢɜɵɱɟɤ, ɩɪɨɮɟɫɫɢɨɧɚɥɶɧɵɯ
ɜɪɟɞɧɨɫɬɟɣ,ɜ ɬ.ɱ.ɧɟ ɛɵɥ ɭɱɚɫɬɧɢɤɨɦ ɥɢɤɜɢɞɚɰɢɢ ɚɜɚɪɢɢ ɧɚ ɑȺɗɋ ɢ ɧɟ ɩɪɨɠɢɜɚɥ ɧɚ ɪɚɞɢɚɰɢɨɧɧɨ ɡɚɝɪɹɡɧɟɧɧɨɣ
ɬɟɪɪɢɬɨɪɢɢ. ɍ ɪɨɞɢɬɟɥɟɣ ɩɪɨɛɚɧɞɨɜ ɤɥɢɧɢɱɟɫɤɢɟ ɩɪɢɡɧɚɤɢ ɩɚɬɨɥɨɝɢɢ ɧɟ ɜɵɹɜɥɟɧɵ.ɍ ɜɫɟɯ ɩɪɨɛɚɧɞɨɜ ɮɟɧɨ
-ɬɢɩɢɱɟɫɤɢ ɛɵɥɢ ɨɛɧɚɪɭɠɟɧɵ ɬɪɢɝɨɧɨɰɟɮɚɥɢɹ (ɤɪɚɧɢɨɫɢɧɨɫɬɨɡ), ɷɩɢɤɚɧɬ, ɝɥɚɡɧɨɣ ɝɢɩɟɪɬɟɥɨɪɢɡɦ, ɦɨɧɝɨ
-ɥɨɢɞɧɵɣ ɪɚɡɪɟɡ ɝɥɚɡɧɵɯ ɳɟɥɟɣ, ɞɥɢɧɧɵɣ ɮɢɥɶɬɪ (ɪɚɫɫɬɨɹɧɢɟ ɦɟɠɞɭ ɧɨɫɨɦ ɢ ɜɟɪɯɧɟɣ ɝɭɛɨɣ), ɩɥɨɫɤɨɟ ɥɢɰɨ ɢ
ɫɩɢɧɤɚ ɧɨɫɚ,ɞɟɮɨɪɦɚɰɢɹ ɭɲɧɵɯ ɪɚɤɨɜɢɧ.ɍ ɞɜɨɢɯ ɢɡ ɬɪɟɯ ɩɚɰɢɟɧɬɨɜ ɨɛɧɚɪɭɠɟɧ ɷɤɡɨɮɬɚɥɶɦ,ɤɨɧɬɪɚɤɬɭɪɵ
ɜɬɨɪɨɝɨ ɢ ɬɪɟɬɶɟɝɨ ɩɚɥɶɰɟɜ ɤɢɫɬɢ,ɝɢɩɨɩɥɚɡɢɹ ɧɚɪɭɠɧɵɯ ɩɨɥɨɜɵɯ ɨɪɝɚɧɨɜ.ȼɨ ɜɫɟɯ ɬɪɟɯ ɫɥɭɱɚɹɯ ɨɛɧɚɪɭɠɟɧɚ
ɦɨɧɨɫɨɦɢɹ ɯɪɨɦɨɫɨɦɵ 9 ɤɪɢɬɢɱɟɫɤɨɝɨ ɫɟɝɦɟɧɬɚ ɪ 24. ɉɪɢ ɤɚɪɢɨɬɢɩɢɪɨɜɚɧɢɢ ɪɨɞɢɬɟɥɟɣ ɩɪɨɛɚɧɞɨɜ ɯɪɨ
-ɦɨɫɨɦɧɵɟ ɩɟɪɟɫɬɪɨɣɤɢ ɧɟ ɜɵɹɜɥɟɧɵ, ɬɨ ɟɫɬɶ ɭ ɩɚɰɢɟɧɬɨɜ ɨɛɧɚɪɭɠɟɧɵ ɧɨɜɵɟ ɦɭɬɚɰɢɢ. Ɂɚɞɟɪɠɤɚ ɮɢɡɢ
-ɱɟɫɤɨɝɨ,ɫɬɚɬɨɤɢɧɟɬɢɱɟɫɤɨɝɨ ɢ ɩɫɢɯɨɪɟɱɟɜɨɝɨ ɪɚɡɜɢɬɢɹ ɭ ɩɪɨɛɚɧɞɚ,ɨɫɨɛɟɧɧɨ ɜ ɫɨɱɟɬɚɧɢɢ ɫ ɦɢɤɪɨɚɧɨɦɚɥɢɹɦɢ
ɪɚɡɜɢɬɢɹ, ɹɜɥɹɟɬɫɹ ɩɨɤɚɡɚɧɢɟɦ ɞɥɹ ɦɟɞɢɤɨ-ɝɟɧɟɬɢɱɟɫɤɨɝɨ ɤɨɧɫɭɥɶɬɢɪɨɜɚɧɢɹ ɜ ɦɟɞɢɤɨ-ɝɟɧɟɬɢɱɟɫɤɢɯ ɭɱ
-ɪɟɠɞɟɧɢɹɯ ɜɬɨɪɨɝɨ ɢ ɬɪɟɬɶɟɝɨ ɭɪɨɜɧɟɣ.ɉɪɢ ɪɟɩɪɨɞɭɤɬɢɜɧɵɯ ɩɨɬɟɪɹɯ ɧɟɹɫɧɨɝɨ ɝɟɧɟɡɚ ɜ ɚɧɚɦɧɟɡɟ ɧɟɨɛɯɨɞɢɦɨ
ɩɪɨɜɨɞɢɬɶ ɰɢɬɨɝɟɧɟɬɢɱɟɫɤɨɟ ɢɫɫɥɟɞɨɜɚɧɢɟ ɩɥɨɞɧɨɝɨ ɦɚɬɟɪɢɚɥɚ.
Abstract. Rare human diseases: 9p deletion syndrome. Galagan V.O. Objective of the study was to review the
anamnesis, pheno - and genotype in patients with rare chromosome disorders such as 9p deletion syndrome. Genetic methods of investigation (clinical and genealogical, cytogenetic, FISH- method), paraclinical and instrumental methods of examination were used. Karyotyping was performed by the G-method of differential staining of chromosomes. Only three cases of pathology were diagnosed in the Medical Genetics Center over the last 10 years. By anamnesis data nobody in the probands’ families had bad habits, was exposed to occupational hazards, took part in the elimination of the Chernobyl accident or lived in contaminated areas. Clinical signs of diseases have not been identified in probands’ parents. All probands had trigonocephaly, bilateral epicanthal folds, ocular hypertelorism, downslanting palpebral fissures, long philtrum, flat face and nasal bridge, low set ears with malformed auricles. Two patients of three ones had exophthalmos, contracture of the second and third fingers, abnormal external genitalia. In all three cases there was monosomy of chromosome 9 of critical segment p 24. Normal karyotypes were seen in all parents, so there were three cases of new mutations of 9p deletion syndrome. Retardation of physical, psycho-spech, mental development in proband with or without congenital anomalies requires medical genetic counseling in a specialized institution. Cases of reproductive loss in anamnesis require cytogenetic investigation of fetal membranes and amniotic fluid.
ɍɜɚɝɭ ɞɨ ɪɿɞɤɿɫɧɢɯ (ɫɢɪɿɬɫɶɤɢɯ, ɨɪɮɚɧɧɢɯ)
ɯɜɨɪɨɛ ɫɭɫɩɿɥɶɫɬɜɨ ɩɨɱɚɥɨ ɜɢɹɜɥɹɬɢ ɬɿɥɶɤɢ ɜ ɨɫɬɚɧɧɿ ɞɟɫɹɬɢɥɿɬɬɹ, ɣɦɨɜɿɪɧɨ, ɭ ɡɜ‘ɹɡɤɭ ɡ ɬɢɦ,
ɳɨ ɞɥɹ ʀɯɧɶɨɝɨ ɥɿɤɭɜɚɧɧɹ ɩɨɬɪɿɛɧɿ ɛɭɥɢ ɨɛ
-ɦɟɠɟɧɿ ɤɿɥɶɤɨɫɬɿ ɩɟɜɧɢɯ ɮɚɪɦɚɤɨɥɨɝɿɱɧɢɯ ɩɪɟ
-ɩɚɪɚɬɿɜ, ɹɤɿ ɧɟ ɩɪɢɧɨɫɢɥɢ ɜɟɥɢɤɢɯ ɡɢɫɤɿɜ
ɮɚɪɦɚɤɨɥɨɝɿɱɧɢɦ ɤɨɦɩɚɧɿɹɦ. Ɍɚɤ, ɭ ɋɩɨɥɭɱɟɧɢɯ
ɒɬɚɬɚɯ Ⱥɦɟɪɢɤɢ ɛɭɜ ɜɢɞɚɧɢɣ ɡɚɤɨɧ ɳɨɞɨ
ɫɢɪɿɬɫɶɤɢɯ ɮɚɪɦɚɤɨɥɨɝɿɱɧɢɯ ɩɪɟɩɚɪɚɬɿɜ (Orphan Drug Act , 1983); ɪɿɞɤɿɫɧɢɯ ɯɜɨɪɨɛ (Rare Disease Act, 2002), ɜ ɹɤɢɯ ɜɢɡɧɚɱɟɧɨ, ɳɨ ɪɿɞɤɿɫɧɢɦɢ ɽ
ɯɜɨɪɨɛɢ, ɹɤɿ ɡɭɫɬɪɿɱɚɸɬɶɫɹ 1: 1 500 (ɭ ɋɒȺ ɡɚ
-ɝɚɥɨɦ ɰɟ ɫɬɚɧɨɜɢɬɶ ɛɥɢɡɶɤɨ 200 ɬɢɫ. ɨɫɿɛ). ȼɿɞ
-ɩɨɜɿɞɧɭ ɡɚɤɨɧɨɞɚɜɱɭ ɛɚɡɭ ɦɚɽ ɿ Ɋɨɫɿɣɫɶɤɚ Ɏɟ
ɄɅȱɇȱɑɇȺ ɆȿȾɂɐɂɇȺ
ɆȿȾɂɑɇȱ ɉȿɊɋɉȿɄɌɂȼɂ
16
ɡɚɯɜɨɪɸɜɚɧɧɹɦɢ ɤɪɚʀɧɢ,ɡɨɤɪɟɦɚ ɿ ɧɚɲɚ ɞɟɪɠɚɜɚ,
ɨɛ‘ɽɞɧɚɥɢɫɹ ɜ ɦɟɪɟɠɭ Orphanɟt.
ɋɥɿɞ ɜɢɡɧɚɬɢ, ɳɨ ɩɪɢ ɞɿɚɝɧɨɫɬɢɰɿ ɪɿɞɤɿɫɧɢɯ
ɯɜɨɪɨɛ, ɛɿɥɶɲɿɫɬɶ ɡ ɹɤɢɯ ɦɚɽ ɝɟɧɟɬɢɱɧɭ ɨɫɧɨɜɭ,
ɜɢɧɢɤɚɸɬɶ ɩɟɜɧɿ ɬɪɭɞɧɨɳɿ, ɜ ɬ.ɱ. ɿ ɭ ɡɜ‘ɹɡɤɭ ɡ
ɬɢɦ,ɳɨ ɦɟɞɢɱɧɿ ɝɟɧɟɬɢɤɢ ɩɪɨɬɹɝɨɦ ɫɜɨɽʀ ɤɥɿɧɿɱ
-ɧɨʀ ɩɪɚɤɬɢɤɢ ɧɟ ɡɚɜɠɞɢ ɫɬɢɤɚɸɬɶɫɹ ɡ ɩɚɰɿɽɧɬɚɦɢ,
ɤɨɬɪɿ ɫɬɪɚɠɞɚɸɬɶ ɧɚ ɬɚɤɿ ɯɜɨɪɨɛɢ.
ɋɢɧɞɪɨɦ Ⱥɥɶɮɿ (ɫɢɧɞɪɨɦ 9ɪ-) ɽ ɜɪɨɞɠɟɧɢɦ ɿ
ɜɩɟɪɲɟ ɨɩɢɫɚɧɢɣ ɭ 1973 ɪɨɰɿ.ɐɢɬɨɝɟɧɟɬɢɱɧɿ ɜɚ
-ɪɿɚɧɬɢ ɦɨɠɭɬɶ ɛɭɬɢ ɪɿɡɧɢɦɢ: ɱɚɫɬɤɨɜɚ ɞɟɥɟɰɿɹ
ɤɨɪɨɬɤɨɝɨ ɩɥɟɱɚ 9 ɯɪɨɦɨɫɨɦɢ, ɿɡɨɯɪɨɦɨɫɨɦɚ 9q,
ɧɟɡɛɚɥɚɧɫɨɜɚɧɿ ɬɪɚɧɫɥɨɤɚɰɿʀ, ɩɪɨɬɟ ɜ ɭɫɿɯ ɜɢ
-ɩɚɞɤɚɯ ɫɩɨɫɬɟɪɿɝɚɽɬɶɫɹ ɜɬɪɚɬɚ ɫɟɝɦɟɧɬɚ 9ɪ22.
Ⱦɿɚɝɧɨɫɬɢɱɧɢɦɢ ɨɡɧɚɤɚɦɢ ɡɚɯɜɨɪɸɜɚɧɧɹ ɽ ɬɪɢɝɨɧɨɰɟɮɚɥɿɹ, ɪɿɡɤɨ ɜɢɫɬɭɩɚɸɱɢɣ ɥɨɛ, ɦɨɧ
-ɝɨɥɨʀɞɧɢɣ ɪɨɡɪɿɡ ɨɱɟɣ, ɟɩɿɤɚɧɬ, ɟɤɡɨɮɬɚɥɶɦ, ɝɿ
-ɩɟɪɬɟɥɨɪɢɡɦ, ɫɩɥɸɳɟɧɟ ɿ ɲɢɪɨɤɟ ɩɟɪɟɧɿɫɫɹ, ɦɚ
-ɥɟɧɶɤɢɣ ɪɨɬ ɡ ɜɟɥɢɤɨɸ ɜɟɪɯɧɶɨɸ ɝɭɛɨɸ, ɜɢɫɨɤɟ
ɩɿɞɧɟɛɿɧɧɹ. ȼɭɲɧɿ ɪɚɤɨɜɢɧɢ ɛɟɡ ɦɨɱɤɢ ɚɛɨ ɜɨɧɚ
ɧɟɞɨɪɨɡɜɢɧɟɧɚ, ɡɿ ɡɝɥɚɞɠɟɧɢɦ ɡɚɜɢɬɤɨɦ. ɒɢɹ
ɤɨɪɨɬɤɚ, ɩɚɥɶɰɿ ɪɭɤ ɿ ɧɿɝ ɞɨɜɝɿ, ɧɿɝɬɿ ɲɢɪɨɤɿ,
ɨɩɭɤɥɿ, ɤɜɚɞɪɚɬɧɨʀ ɮɨɪɦɢ. ɍ ɞɿɜɱɚɬɨɤ ɜɢɪɚɠɟɧɚ
ɝɿɩɨɩɥɚɡɿɹ ɦɚɥɢɯ ɿ ɜɟɥɢɤɢɯ ɫɬɚɬɟɜɢɯ ɝɭɛ, ɭ
ɯɥɨɩɱɢɤɿɜ - ɝɿɩɨɩɥɚɡɿɹ ɦɨɲɨɧɤɢ ɿ ɫɬɚɬɟɜɨɝɨ
ɱɥɟɧɚ. Ɂ ɜɚɞ ɜɧɭɬɪɿɲɧɿɯ ɨɪɝɚɧɿɜ ɜɿɞɦɿɱɟɧɨ ɭɪɚ
-ɠɟɧɧɹ ɫɟɪɰɟɜɨ-ɫɭɞɢɧɧɨʀ ɫɢɫɬɟɦɢ ɿ ɝɿɞɪɨɧɟɮɪɨɡ
ɧɢɪɨɤ. ɋɩɨɫɬɟɪɿɝɚɽɬɶɫɹ ɪɨɡɭɦɨɜɚ ɜɿɞɫɬɚɥɿɫɬɶ ɪɿɡ
-ɧɨɝɨ ɫɬɭɩɟɧɹ ɜɢɪɚɠɟɧɨɫɬɿ. Ɂɚ ɯɚɪɚɤɬɟɪɨɦ ɯɜɨɪɿ
ɥɚɫɤɚɜɿ, ɫɩɨɤɿɣɧɿ, ɫɥɭɯɧɹɧɿ. ɉɪɨɝɧɨɡ ɞɥɹ ɠɢɬɬɹ
ɫɩɪɢɹɬɥɢɜɢɣ [1].
ɋɥɿɞ ɬɚɤɨɠ ɡɚɡɧɚɱɢɬɢ, ɳɨ ɛɿɥɶɲ ɱɚɫɬɨ, ɧɿɠ
ɜɪɨɞɠɟɧɿ ɫɢɧɞɪɨɦɢ, ɰɢɬɨɝɟɧɟɬɢɱɧɿ ɡɦɿɧɢ ɤɨɪɨɬ
-ɤɨɝɨ ɩɥɟɱɚ ɯɪɨɦɨɫɨɦɢ 9 (ɜɿɞ 9 ɪ11 ɞɨ 9 ɪ 24)
ɫɩɨɫɬɟɪɿɝɚɸɬɶ ɩɪɢ ɧɟɨɩɥɚɡɿɹɯ ɤɪɨɜɨɬɜɨɪɧɨʀ ɫɢɫɬɟɦɢ. Ⱦɟɥɟɰɿʀ ɤɨɪɨɬɤɨɝɨ ɩɥɟɱɚ ɩɟɪɟɜɚɠɧɨ
ɪɟɽɫɬɪɭɸɬɶ ɩɪɢ ɝɨɫɬɪɨɦɭ ɥɿɦɮɨɛɥɚɫɬɧɨɦɭ ɥɟɣɤɨɡɿ [1, 4, 6]. ȼɿɞɩɨɜɿɞɧɨ ɞɨ ɞɚɧɢɯ, ɜɢɤɥɚɞɟ
-ɧɢɯ ɭ ɥɿɬɟɪɚɬɭɪɿ, 7-12% ɯɜɨɪɢɯ ɧɚ ɝɨɫɬɪɭ
ɥɿɦɮɨɛɥɚɫɬɧɭ ɥɟɣɤɟɦɿɸ ɦɚɸɬɶ ɜɢɳɟɜɤɚɡɚɧɿ ɰɢ
-ɬɨɝɟɧɟɬɢɱɧɿ ɡɦɿɧɢ, ɹɤɿ ɜɢɧɢɤɚɸɬɶ ɧɚ ɪɿɜɧɿ ɦɭɥɶ
-ɬɢɩɨɬɟɧɬɧɨʀ ɫɬɜɨɥɨɜɨʀ ɤɥɿɬɢɧɢ [8]. Ɇɨɥɟɤɭɥɹɪɧɨ
-ɝɟɧɟɬɢɱɧɿ ɞɨɫɥɿɞɠɟɧɧɹ, ɜɢɤɨɧɚɧɿ ɜ ɰɿɣ ɨɛɥɚɫɬɿ,
ɞɨɡɜɨɥɹɸɬɶ ɩɪɢɩɭɫɬɢɬɢ, ɳɨ ɩɪɢɱɢɧɨɸ ɧɟɨɩɥɚɡɿʀ
ɦɨɠɟ ɛɭɬɢ ɜɬɪɚɬɚ ɝɟɧɟɬɢɱɧɨɝɨ ɦɚɬɟɪɿɚɥɭ, ɹɤɢɣ
ɦɿɫɬɢɜ ɝɟɧɢ,ɳɨ ɫɬɪɢɦɭɜɚɥɢ ɪɿɫɬ ɩɭɯɥɢɧɢ [4, 5].
Ɍɚɤɢɦ ɱɢɧɨɦ, ɡɚ ɞɚɧɢɦɢ ɥɿɬɟɪɚɬɭɪɢ ɿɫɧɭɸɬɶ
ɭɫɿ ɩɿɞɫɬɚɜɢ ɜɜɚɠɚɬɢ ɜɬɪɚɬɭ ɝɟɧɟɬɢɱɧɨɝɨ ɦɚɬɟ
-ɪɿɚɥɭ ɜ ɤɨɪɨɬɤɨɦɭ ɩɥɟɱɿ ɯɪɨɦɨɫɨɦɢ 9 ɡɧɚɱɭɳɨɸ
ɹɤ ɞɥɹ ɜɢɧɢɤɧɟɧɧɹ ɜɪɨɞɠɟɧɢɯ ɯɜɨɪɨɛ, ɬɚɤ ɿ ɞɥɹ
ɪɨɡɜɢɬɤɭ ɧɟɨɩɥɚɡɿɣ ɤɪɨɜɨɬɜɨɪɧɨʀ ɫɢɫɬɟɦɢ. Ɂɚɜ
-ɞɚɧɧɹ ɩɪɟɞɫɬɚɜɥɟɧɨʀ ɪɨɛɨɬɢ ɩɨɥɹɝɚɥɨ ɜ ɚɧɚɥɿɡɿ ɚɧɚɦɧɟɡɭ, ɮɟɧɨ- ɬɚ ɝɟɧɨɬɢɩɭ ɭ ɩɚɰɿɽɧɬɿɜ ɡ ɬɚɤɨɸ
ɪɿɞɤɿɫɧɨɸ ɜɪɨɞɠɟɧɨɸ ɩɚɬɨɥɨɝɿɽɸ ɹɤ ɦɨɧɨɫɨɦɿɹ ɤɨɪɨɬɤɨɝɨ ɩɥɟɱɚ ɯɪɨɦɨɫɨɦɢ 9.
ɆȺɌȿɊȱȺɅɂ ɌȺ ɆȿɌɈȾɂ ȾɈɋɅȱȾɀȿɇɖ
ɍ ɪɨɛɨɬɿ ɜɢɤɨɪɢɫɬɚɧɿ ɝɟɧɟɬɢɱɧɿ (ɤɥɿɧɿɤɨ
-ɝɟɧɟɚɥɨɝɿɱɧɢɣ,ɰɢɬɨɝɟɧɟɬɢɱɧɢɣ, FISH-ɦɟɬɨɞ),ɩɚ
-ɪɚɤɥɿɧɿɱɧɿ ɬɚ ɿɧɫɬɪɭɦɟɧɬɚɥɶɧɿ ɦɟɬɨɞɢ ɨɛɫɬɟɠɟɧ
-ɧɹ. Ʉɚɪɿɨɬɢɩɭɜɚɧɧɹ ɩɪɨɜɨɞɢɥɢ ɡɚ ɫɬɚɧɞɚɪɬɧɨɸ
ɦɟɬɨɞɢɤɨɸ (G-ɦɟɬɨɞ ɞɢɮɟɪɟɧɰɿɣɧɨɝɨ ɮɚɪɛɭɜɚɧ
-ɧɹ ɯɪɨɦɨɫɨɦ) [2].
Ⱦɥɹ ɜɟɪɢɮɿɤɚɰɿʀ ɦɿɤɪɨɞɟɥɟɰɿɣɧɢɯ ɫɢɧɞɪɨɦɿɜ ɡɚɫɬɨɫɨɜɭɜɚɥɢ ɦɟɬɨɞ ɮɥɭɨɪɟɫɰɟɧɬɧɨʀ in situ ɝɿɛ
-ɪɢɞɢɡɚɰɿʀ ɡ ɜɢɤɨɪɢɫɬɚɧɧɹɦ ɥɨɤɭɫ-ɫɩɟɰɢɮɿɱɧɢɯ
ɡɨɧɞɿɜ: Vysis DiGeorge Region Probe – LSI TUPLE 1 SpectrumOrange/LSI ARSA Spec-trumGreen; Vysis Williams Region Probe – LSI ELN SpectrumOrange/LSI D7S486, D7S522 Spec-trumGreen. FISH-ɦɟɬɨɞ ɜɢɤɨɧɭɜɚɥɢ ɡɝɿɞɧɨ ɡ
ɿɧɫɬɪɭɤɰɿɽɸ ɜ ɤɨɦɩɥɟɤɬɿ ɿɡ ɡɨɧɞɚɦɢ.
Ⱥɧɚɥɿɡ ɫɬɚɧɞɚɪɬɧɢɯ ɰɢɬɨɝɟɧɟɬɢɱɧɢɯ ɩɪɟɩɚɪɚ
-ɬɿɜ ɩɪɨɜɨɞɢɥɢ ɧɚ ɦɿɤɪɨɫɤɨɩɿ Nikon E400 (əɩɨ
-ɧɿɹ); FISH – ɧɚ ɮɥɭɨɪɟɫɰɟɧɬɧɨɦɭ ɦɿɤɪɨɫɤɨɩɿ Nikon E600 (əɩɨɧɿɹ).
ɊȿɁɍɅɖɌȺɌɂ ɌȺ Ȳɏ ɈȻȽɈȼɈɊȿɇɇə
ɍ ɦɟɞɢɤɨ-ɝɟɧɟɬɢɱɧɨɦɭ ɰɟɧɬɪɿ (ɆȽɐ) ɇɚ
-ɰɿɨɧɚɥɶɧɨʀ ɞɢɬɹɱɨʀ ɫɩɟɰɿɚɥɿɡɨɜɚɧɨʀ ɥɿɤɚɪɧɿ
«ɈɏɆȺɌȾɂɌ»ɆɈɁ ɍɤɪɚʀɧɢ ɡ 2004 ɩɨ 2013 ɪɿɤ
ɛɭɥɨ ɞɿɚɝɧɨɫɬɨɜɚɧɨ ɜɫɶɨɝɨ ɬɪɢ ɜɢɩɚɞɤɢ ɫɢɧɞɪɨɦɭ Ⱥɥɶɮɿ (ɜɫɿ ɩɪɨɛɚɧɞɢ – ɞɿɜɱɚɬɤɚ). Ⱦɜɚ ɩɚɰɿɽɧɬɢ –
ɠɢɬɟɥɿ ɦ. Ʉɢɽɜɚ – ɛɭɥɢ ɫɩɪɹɦɨɜɚɧɿ ɞɨ ɆȽɐ ɞɢ
-ɬɹɱɢɦɢ ɧɟɜɪɨɥɨɝɚɦɢ, ɨɞɢɧ ɩɚɰɿɽɧɬ ɩɪɨɠɢɜɚɜ ɭ
ɦ.ɀɢɬɨɦɢɪ ɿ ɦɚɜ ɧɚɩɪɚɜɥɟɧɧɹ ɀɢɬɨɦɢɪɫɶɤɨɝɨ
ɨɛɥɚɫɧɨɝɨ ɐɟɧɬɪɭ ɩɥɚɧɭɜɚɧɧɹ ɫɿɦ‘ʀ ɬɚ ɪɟɩɪɨɞɭɤ
-ɰɿʀ ɥɸɞɢɧɢ.
ɉɟɪɲɢɣ ɩɪɨɛɚɧɞ Ⱥ.ɩɨɫɬɭɩɢɜ ɧɚ ɤɨɧɫɭɥɶɬɭɜɚɧɧɹ
ɭ ɆȽɐ ɭ ɦɿɫɹɱɧɨɦɭ ɜɿɰɿ.ɋɿɦ’ɹ ɩɪɨɠɢɜɚɽ ɭ ɦ.Ʉɢɽɜɿ.
Ȼɚɬɶɤɚɦ ɩɨ 38 ɪɨɤɿɜ,ɨɡɧɚɤ ɩɚɬɨɥɨɝɿʀ ɭ ɧɢɯ ɧɟ ɜɢɹɜ
-ɥɟɧɨ. Ɍɚɬɨ ɜɿɞ ɩɨɩɟɪɟɞɧɶɨɝɨ ɲɥɸɛɭ ɦɚɽ ɡɞɨɪɨɜɭ 19-ɪɿɱɧɭ ɞɢɬɢɧɭ. ɍ ɰɶɨɦɭ ɲɥɸɛɿ ɩɟɪɲɚ ɜɚɝɿɬɧɿɫɬɶ
ɡɚɤɿɧɱɢɥɚɫɹ ɜɢɤɢɞɧɟɦ ɧɚ ɬɟɪɦɿɧɿ 24 ɬɢɠɧɿ. ɉɪɢ ɩɚ
-ɬɨɥɨɝɨɧɚɬɨɦɿɱɨɦɭ ɞɨɫɥɿɞɠɟɧɧɿ ɩɥɨɞɚ ɨɡɧɚɤ ɜɪɨɞ
-ɠɟɧɨʀ ɩɚɬɨɥɨɝɿʀ ɧɟ ɜɢɹɜɥɟɧɨ, ɨɞɧɚɤ ɩɥɿɞ ɧɟ ɛɭɜ
ɨɛɫɬɟɠɟɧɢɣ ɰɢɬɨɝɟɧɟɬɢɱɧɨ.
Ⱦɪɭɝɢɣ ɩɪɨɛɚɧɞ Ȼ. ɛɭɜ ɞɿɚɝɧɨɫɬɨɜɚɧɢɣ ɭ ɜɿɰɿ
ɨɞɢɧ ɦɿɫɹɰɶ 3 ɬɢɠɧɿ.ɋɿɦ’ɹ ɩɪɨɠɢɜɚɥɚ ɭ ɦ.Ʉɢɽɜɿ.
Ʉɥɿɧɿɱɧɨ ɡɞɨɪɨɜɿ ɛɚɬɶɤɢ (ɦɚɬɢ ɜɿɤɨɦ 34 ɪɨɤɢ,
ɛɚɬɶɤɨ - 39) ɛɭɥɢ TORCH ɿɧɮɿɤɨɜɚɧɿ. ɉɨɞɪɭɠɠɹ
ɦɚɥɨ ɡɞɨɪɨɜɭ 8-ɪɿɱɧɭ ɞɢɬɢɧɭ ɬɚ ɫɚɦɨɜɿɥɶɧɢɣ ɜɢ
-ɤɢɞɟɧɶ ɧɚ ɬɟɪɦɿɧɿ 5-6 ɬɢɠɧɿɜ (ɰɢɬɨɝɟɧɟɬɢɱɧɨ ɧɟ
ɨɛɫɬɟɠɟɧɢɣ).
Ɍɪɟɬɿɣ ɩɪɨɛɚɧɞ ȼ. ɩɨɫɬɭɩɢɜ ɧɚ ɨɛɫɬɟɠɟɧɧɹ ɭ
ɞɜɨɪɿɱɧɨɦɭ ɜɿɰɿ. ɉɪɢ ɰɶɨɦɭ ɡɚ ɦɿɫɰɟɦ ɩɪɨɠɢ
-ɜɚɧɧɹ (ɦ.ɀɢɬɨɦɢɪ) ɛɭɥɨ ɩɪɨɜɟɞɟɧɨ ɤɚɪɿɨɬɢɩɭ
-ɜɚɧɧɹ – 46ɏɏ. ɍ ɛɚɬɶɤɿɜ (ɦɚɬɢ – 25, ɛɚɬɶɤɨ – 29ɪɨɤɿɜ) ɨɡɧɚɤ ɛɭɞɶ-ɹɤɨʀ ɩɚɬɨɥɨɝɿʀ ɧɟ ɜɢɹɜɥɟɧɨ.
ɍ ɧɢɯ ɨɛɨɯ ɽ ɩɨ ɨɞɧɿɣ ɡɞɨɪɨɜɿɣ ɞɢɬɢɧɿ ɜɿɞ ɩɨɩɟ
17
14/
Ɍɨɦ
XI
ɏ
/ 3
Ɋɨɞɨɜɨɞɢ ɩɪɨɛɚɧɞɿɜ ɛɭɥɢ ɩɪɟɞɫɬɚɜɥɟɧɿ ɬɪɶɨɦɚ ɩɨɤɨɥɿɧɧɹɦɢ. ɍ ɜɫɿɯ ɩɪɟɞɫɬɚɜɧɢɤɿɜ ɬɪɟɬɶɨɝɨ ɩɨ
-ɤɨɥɿɧɧɹ (ɡɚ ɫɥɨɜɚɦɢ ɛɚɬɶɤɿɜ ɩɪɨɛɚɧɞɿɜ ɬɚ ɮɨɬɨ
-ɝɪɚɮɿɹɦɢ)ɤɥɿɧɿɱɧɿ ɨɡɧɚɤɢ ɜɪɨɞɠɟɧɨʀ ɩɚɬɨɥɨɝɿʀ ɧɟ
ɜɢɹɜɥɟɧɿ.Ɂɚ ɞɚɧɢɦɢ ɚɧɚɦɧɟɡɭ ɧɿɯɬɨ ɜ ɪɨɞɨɜɨɞɿ ɧɟ
ɦɚɜ ɲɤɿɞɥɢɜɢɯ ɡɜɢɱɨɤ, ɧɟ ɩɿɞɞɚɜɚɜɫɹ ɜɩɥɢɜɭ
ɩɪɨɮɟɫɿɣɧɢɯ ɲɤɿɞɥɢɜɨɫɬɟɣ, ɭ ɬ.ɱ. ɧɟ ɛɭɜ ɭɱɚɫ
-ɧɢɤɨɦ ɥɿɤɜɿɞɚɰɿʀ ɚɜɚɪɿʀ ɧɚ ɑȺȿɋ ɬɚ ɧɟ ɩɪɨɠɢɜɚɜ ɧɚ ɪɚɞɿɚɰɿɣɧɨ ɡɚɛɪɭɞɧɟɧɿɣ ɬɟɪɢɬɨɪɿʀ.
ɋɥɿɞ ɬɚɤɨɠ ɡɚɡɧɚɱɢɬɢ, ɳɨ, ɧɟɡɜɚɠɚɸɱɢ ɧɚ
ɩɪɹɦɿ ɩɨɤɚɡɚɧɧɹ (ɜɿɤ ɦɚɣɛɭɬɧɿɯ ɛɚɬɶɤɿɜ, ɪɟɩɪɨ
-ɞɭɤɬɢɜɧɿ ɜɬɪɚɬɢ ɜ ɚɧɚɦɧɟɡɿ),ɞɨ ɧɚɪɨɞɠɟɧɧɹ ɩɪɨ
-ɛɚɧɞɿɜ ɠɨɞɧɚ ɡ ɫɿɦɟɣ ɧɟ ɨɬɪɢɦɚɥɚ ɦɟɞɢɤɨ-ɝɟɧɟ
-ɬɢɱɧɨɝɨ ɤɨɧɫɭɥɶɬɭɜɚɧɧɹ.
ȼɫɿ ɩɪɨɛɚɧɞɢ ɩɪɢ ɧɚɪɨɞɠɟɧɧɿ ɦɚɥɢ ɦɚɫɭ 3000 – 3370 ɝ ɿ ɫɟɪɟɞɧɿɣ ɡɪɿɫɬ 52-54 ɫɦ.
ɉɿɞ ɱɚɫ ɦɟɞɢɤɨ-ɝɟɧɟɬɢɱɧɨɝɨ ɤɨɧɫɭɥɶɬɭɜɚɧɧɹ ɭ
ɜɫɿɯ ɩɪɨɛɚɧɞɿɜ ɮɟɧɨɬɢɩɨɜɨ ɛɭɥɢ ɜɢɜɢɹɜɥɟɧɿ ɬɪɢ
-ɝɨɧɨɰɟɮɚɥɿɹ (ɤɪɚɧɿɨɫɢɧɨɫɬɨɡ), ɟɩɿɤɚɧɬ, ɨɱɧɢɣ ɝɿ
-ɩɟɪɬɟɥɨɪɢɡɦ, ɦɨɧɝɨɥɨʀɞɧɢɣ ɪɨɡɪɿɡ ɨɱɧɢɯ ɳɿɥɢɧ,
ɩɨɞɨɜɠɟɧɢɣ ɮɿɥɶɬɪ (ɜɿɞɫɬɚɧɶ ɦɿɠ ɧɨɫɨɦ ɿ
ɜɟɪɯɧɶɨɸ ɝɭɛɨɸ),ɩɥɚɫɤɿ ɨɛɥɢɱɱɹ ɬɚ ɫɩɢɧɤɚ ɧɨɫɚ,
ɞɟɮɨɪɦɚɰɿɹ ɜɭɲɧɢɯ ɪɚɤɨɜɢɧ. ɍ ɞɜɨɯ ɡ ɬɪɶɨɯ ɩɚ
-ɰɿɽɧɬɿɜ ɦɚɜ ɦɿɫɰɟ ɟɤɡɨɮɬɚɥɶɦ, ɤɨɧɬɪɚɤɬɭɪɢ ɞɪɭ
-ɝɨɝɨ ɿ ɬɪɟɬɶɨɝɨ ɩɚɥɶɰɿɜ ɤɢɫɬɿ, ɝɿɩɨɩɥɚɡɿɹ ɡɨɜ
-ɧɿɲɧɿɯ ɫɬɚɬɟɜɢɯ ɨɪɝɚɧɿɜ.
Ⱦɜɚ ɡ ɬɪɶɨɯ ɩɪɨɛɚɧɞɿɜ ɦɚɥɢ ɞɜɨɛɿɱɧɭ ɩɚɯɨɜɭ ɤɢɥɭ ɬɚ ɜɪɨɞɠɟɧɢɣ ɫɬɟɧɨɡ ɥɟɝɟɧɟɜɨʀ ɚɪɬɟɪɿʀ.
ɍ ɧɟɜɪɨɥɨɝɿɱɧɨɦɭ ɫɬɚɬɭɫɿ ɭ ɜɫɿɯ ɩɪɨɛɚɧɞɿɜ ɜɿɞɡɧɚɱɟɧɚ ɦ‘ɹɡɨɜɚ ɝɿɩɨɬɨɧɿɹ, ɝɿɩɨɪɟɮɥɟɤɫɿɹ, ɡɚ
-ɬɪɢɦɤɚ ɮɿɡɢɱɧɨɝɨ ɬɚ ɩɫɢɯɨɦɨɜɧɨɝɨ ɪɨɡɜɢɬɤɭ.
Ɂɚ ɞɚɧɢɦɢ ɥɿɬɟɪɚɬɭɪɢ, ɤɪɢɬɢɱɧɢɦ ɪɟɝɿɨɧɨɦ
ɯɪɨɦɨɫɨɦɢ 9 ɩɪɢ ɬɚɤɨɦɭ ɫɢɧɞɪɨɦɿ ɽ ɫɟɝɦɟɧɬ ɪ 24
[3]. ɍ ɩɪɟɞɫɬɚɜɥɟɧɨɦɭ ɞɨɫɥɿɞɠɟɧɧɿ ɤɚɪɿɨɬɢɩɢ
ɩɪɨɛɚɧɞɿɜ Ⱥ,ȼ.,ȼ.ɯɚɪɚɤɬɟɪɢɡɭɜɚɥɢɫɶ ɹɤ 46, ɏɏ, del (9) (p23); 46, ɏɏ, del (9) (p21); 46, ɏɏ, del (9) (: p22 **q ter) ɜɿɞɩɨɜɿɞɧɨ,ɬɨɛɬɨ ɭ ɜɫɿɯ ɬɪɶɨɯ ɜɢ
-ɩɚɞɤɚɯ ɦɚɥɚ ɦɿɫɰɟ ɦɨɧɨɫɨɦɿɹ ɯɪɨɦɨɫɨɦɢ 9 ɤɪɢ
-ɬɢɱɧɨɝɨ ɫɟɝɦɟɧɬɚ ɪ 24.
ɉɪɢ ɤɚɪɿɨɬɢɩɭɜɚɧɧɿ ɛɚɬɶɤɿɜ ɩɪɨɛɚɧɞɿɜ ɯɪɨ
-ɦɨɫɨɦɧɿ ɩɟɪɟɛɭɞɨɜɢ ɭ ɧɢɯ ɧɟ ɜɢɹɜɥɟɧɿ, ɬɨɛɬɨ ɭ
ɩɚɰɿɽɧɬɿɜ ɦɚɥɢ ɦɿɫɰɟ ɧɨɜɿ ɦɭɬɚɰɿʀ.
ɉɚɰɿɽɧɬɢ ɨɬɪɢɦɭɜɚɥɢ ɫɢɦɩɬɨɦɚɬɢɱɧɟ ɥɿɤɭɜɚɧ
-ɧɹ ɡɚɥɟɠɧɨ ɜɿɞ ɞɿɚɝɧɨɫɬɨɜɚɧɨʀ ɨɪɝɚɧɧɨʀ ɩɚɬɨɥɨɝɿʀ,
ɚ ɬɚɤɨɠ ɜɿɞɩɨɜɿɞɧɢɣ ɪɟɚɛɿɥɿɬɚɰɿɣɧɢɣ ɤɨɦɩɥɟɤɫ ɭ ɰɟɧɬɪɚɯ ɪɟɚɛɿɥɿɬɚɰɿʀ ɞɥɹ ɞɿɬɟɣ ɡ ɭɪɚɠɟɧɧɹɦɢ ɰɟɧɬɪɚɥɶɧɨʀ ɧɟɪɜɨɜɨʀ ɫɢɫɬɟɦɢ.
ȼɂɋɇɈȼɄɂ
1. ɇɚɣɛɿɥɶɲ ɯɚɪɚɤɬɟɪɧɨɸ ɤɥɿɧɿɱɧɨɸ ɨɡɧɚɤɨɸ
ɭ ɩɚɰɿɽɧɬɿɜ ɡ ɦɨɧɨɫɟɦɿɽɸ ɯɪɨɦɨɫɨɦɢ 9 ɽ ɬɪɢɝɨ
-ɧɨɰɟɮɚɥɿɹ, ɹɤɚ ɜ ɫɩɨɥɭɱɟɧɧɿ ɡ ɿɧɲɢɦɢ ɮɟɧɨɬɢ
-ɩɨɜɢɦɢ ɩɪɨɹɜɚɦɢ (ɫɬɢɝɦɢ ɞɢɡɟɦɛɪɿɨɝɟɧɟɡɭ) ɧɚ
-ɞɚɽ ɦɨɠɥɢɜɿɫɬɶ ɡɚɩɿɞɨɡɪɢɬɢ ɯɪɨɦɨɫɨɦɧɭ ɩɚɬɨ
-ɥɨɝɿɸ, ɹɤɚ ɩɨɜɢɧɧɚ ɛɭɬɢ ɩɿɞɬɜɟɪɞɠɟɧɚ ɰɢɬɨɝɟɧɟ
-ɬɢɱɧɨ.
2. ɇɚɹɜɧɿɫɬɶ ɭ ɩɪɨɛɚɧɞɚ ɡɚɬɪɢɦɤɢ ɮɿɡɢɱɧɨɝɨ,
ɫɬɚɬɨɤɿɧɟɬɢɱɧɨɝɨ ɬɚ ɩɫɢɯɨɦɨɜɧɨɝɨ ɪɨɡɜɢɬɤɭ,
ɨɫɨɛɥɢɜɨ ɜ ɫɩɨɥɭɱɟɧɧɿ ɡ ɦɿɤɪɨɚɧɨɦɚɥɿɹɦɢ ɪɨɡ
-ɜɢɬɤɭ, ɽ ɩɨɤɚɡɚɧɧɹɦ ɞɥɹ ɦɟɞɢɤɨ-ɝɟɧɟɬɢɱɧɨɝɨ
ɤɨɧɫɭɥɶɬɭɜɚɧɧɹ ɭ ɦɟɞɢɤɨ-ɝɟɧɟɬɢɱɧɢɯ ɡɚɤɥɚɞɚɯ
ɞɪɭɝɨɝɨ ɬɚ ɬɪɟɬɶɨɝɨ ɪɿɜɧɿɜ.
3. ɉɪɢ ɪɟɩɪɨɞɭɤɬɢɜɧɢɯ ɜɬɪɚɬɚɯ ɧɟɜɫɬɚɧɨɜ
-ɥɟɧɨɝɨ ʉɟɧɟɡɭ ɜ ɚɧɚɦɧɟɡɿ ɧɟɨɛɯɿɞɧɨ ɩɪɨɜɨɞɢɬɢ ɰɢɬɨɝɟɧɟɬɢɱɧɟ ɞɨɫɥɿɞɠɟɧɧɹ ɩɥɿɞɧɨɝɨ ɦɚɬɟɪɿɚɥɭ.
ɋ
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ɉ
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1. ȼɨɪɫɚɧɨɜɚ ɋ.Ƚ. Ɇɟɞɢɰɢɧɫɤɚɹ ɰɢɬɨɝɟɧɟɬɢɤɚ (ɭɱɟɛɧɨɟ ɩɨɫɨɛɢɟ) / ɋ.Ƚ.ȼɨɪɫɚɧɨɜɚ,ɘ.Ȼ.ɘɪɨɜ,ȼ.ɇ. ɑɟɪɧɵɲɨɜ. – Ɇ.:Ɇɟɞɩɪɚɤɬɢɤɚ-Ɇ, 2006. – 299 ɫ.
2. Ɂɟɪɨɜɚ-Ʌɸɛɢɦɨɜɚ Ɍ.ȿ. ɐɢɬɨɝɟɧɟɬɢɱɧɿ ɞɨɫɥɿɞ -ɠɟɧɧɹ ɯɪɨɦɨɫɨɦ ɥɸɞɢɧɢ: ɦɟɬɨɞɢɱɧɿ ɪɟɤɨɦɟɧɞɚɰɿʀ / Ɍ.ȿ.Ɂɟɪɨɜɚ-Ʌɸɛɢɦɨɜɚ. – Ʉ., 2003. – 23 ɫ.
3. ɉɟɪɟɫɬɪɨɣɤɢ ɯɪɨɦɨɫɨɦɵ 9 ɩɪɢ ɪɚɡɥɢɱɧɵɯ ɝɟ -ɦɚɬɨɥɨɝɢɱɟɫɤɢɯ ɧɟɨɩɥɚɡɢɹɯ / ɋ.ȼ.Ⱥɧɞɪɟɟɜɚ,ȼ.Ⱦ.Ⱦɪɨɡ -ɞɨɜɚ,ȿ.ȼ.ɉɨɧɨɱɟɜɧɚɹ,ɇ.ȼ.Ʉɚɜɚɪɞɚɤɨɜɚ // ɐɢɬɨɥɨɝɢɹ ɢ ɝɟɧɟɬɢɤɚ. – 2008. – ʋ 5. – ɋ. 72-79.
4. Childhood and Adolescence lymphoid and Mye-loid Leukemia / Ch._H.Pui, Ɇ. Schrappe, R. Ribeiro, C. Niemeyer // Hematology Amer. Soc. Hematol. Educ. Program. – 2004. – P. 118-145.
5. Gilliland D.G. Targeted therapies in myeloid leukemia. Acute leukemias XI. Prognostic factors and
treatment strategies / D.G. Gilliland // Ann. Hematol. – 2004. – Vol. 83, Suppl. 1. – P. 75-76.
6. Human Cytogenetics. A practical approach. Ma-lignancy and acquired abnormalities / Eds D.E. Rooney, B.H. Czepulkovsky. – New York : Oxford Univer. Press, 1995. – 293 p.
7. Karyotype evolution: cytogenetics follow_up study in children acute lymphoblastic leukemia / Ɋ. Mel-dipour, R. Mirfakhraie, Ɇ. Jahani, A.R. Meldipour // Asian Pac. J. Cancer Prev. – 2003. – Vol. 4, N 4. – P. 358-368.
ɄɅȱɇȱɑɇȺ ɆȿȾɂɐɂɇȺ
ɆȿȾɂɑɇȱ ɉȿɊɋɉȿɄɌɂȼɂ
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R
R
E
E
F
F
E
E
R
R
E
E
N
N
C
C
E
E
S
S
1. Vorsanova SG, Yurov YuB, Chernyshov VN. [Medical cytogenetics (manual)]. Moskow: Medpraktika-M; 2006. Russian.
2. Zerova-Lyubimova Ɍȿ. [Cytogenetic researches of chromosomes of the person: methodical recom-mendations]. Ʉyiv; 2003. Ukrainian.
3. Andreeva SV, Drozdova VD, Ponochevnaya EV, Kavardakova NV. [Reorganizations of chromosome 9 in various hematologic neoplaziyakh]. Tsitologiya i ge-netika. 2008;5:72-79. Russian.
4. Pui CH, Schrappe M, Ribeiro RC, Niemeyer CM. Childhood and Adolescence lymphoid and Myeloid Leukemia. Hematology Amer. Soc. Hematol. Educ. Program. 2004;118–145.
5. Gilliland DG. Targeted therapies in myeloid leu-kemia. Acute leukemias XI. Prognostic factors and treatment strategies. Ann. Hematol. 2004;83(1): 75–76.
6. Human Cytogenetics. A practical approach. Mali-gnancy and acquired abnormalities. Eds D.E. Rooney, B.H. Czepulkovsky. New York: Oxford Univ. ɪress., 1995;293.
7. Meldipour Ɋ, Mirfakhraie R, Jahani Ɇ, Meldipour AR. Karyotype evolution: cytogenetics follow_up study in children acute lymphoblastic leukemia. Asian Pac. J. Cancer Prev. 2003;4:358–68.
8. Raimondi SC. Current status of cytogenetic research in childhood acute lymphoblastic leukemia. Blood. 1993;81(1):2237–51.
ɍȾɄ 618.19-006.6-06:577.215/.216 ȼ.Ɇ.Ɂɚɩɨɪɨɠɚɧ,
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Ⱦ.ɘ.Ⱥɧɞɪɨɧɨɜ
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Ɉɞɟɫɶɤɢɣ ɧɚɰɿɨɧɚɥɶɧɢɣ ɦɟɞɢɱɧɢɣ ɭɧɿɜɟɪɫɢɬɟɬ ɩɪɨɜ.ȼɚɥɿɯɿɜɫɶɤɢɣ, 2, Ɉɞɟɫɚ, 65082, ɍɤɪɚʀɧɚ Odessa National Medical University
ln. Valihovskyy, 2, Odessa, 65082, Ukraine e-mail: [email protected]
Ʉɥɸɱɨɜɿ ɫɥɨɜɚ:ɦɟɬɢɥɸɜɚɧɧɹ ȾɇɄ,ɝɟɧ DKK4, CG ɫɚɣɬ,ɚɞɟɧɨɤɚɪɰɢɧɨɦɚ ɦɨɥɨɱɧɨʀ ɡɚɥɨɡɢ.
Key words: DNA methylation, DKK4 gene, CG site, breast adenocarcinoma
Ɋɟɮɟɪɚɬ. Ɉɰɟɧɤɚ ɢɧɮɨɪɦɚɬɢɜɧɨɫɬɢ ɫɬɟɩɟɧɢ ɦɟɬɢɥɢɪɨɜɚɧɢɹ ȾɇɄ ɝɟɧɚ DKK4 ɤɚɤ ɞɢɚɝɧɨɫɬɢɱɟɫɤɨɝɨ
ɤɪɢɬɟɪɢɹ ɩɪɢ ɚɞɟɧɨɤɚɪɰɢɧɨɦɟ ɦɨɥɨɱɧɨɣ ɠɟɥɟɡɵ. Ɂɚɩɨɪɨɠɚɧ ȼ.ɇ., Ȼɭɛɧɨɜ ȼ.ȼ., Ɇɚɪɢɱɟɪɟɞɚ ȼ.Ƚ.,
ɉɟɬɪɨɜɫɤɢɣ ɘ.ɘ., Ⱥɧɞɪɨɧɨɜ Ⱦ.ɘ.Ⱥɧɨɦɚɥɢɢ ɦɟɬɢɥɢɪɨɜɚɧɢɹ ȾɇɄ ɢɝɪɚɸɬ ɡɧɚɱɢɬɟɥɶɧɭɸ ɪɨɥɶ ɜ ɜɨɡɧɢɤɧɨɜɟ
-ɧɢɢ ɢ ɪɚɡɜɢɬɢɢ ɨɧɤɨɥɨɝɢɱɟɫɤɢɯ ɡɚɛɨɥɟɜɚɧɢɣ. ɐɟɥɶɸ ɞɚɧɧɨɝɨ ɢɫɫɥɟɞɨɜɚɧɢɹ ɛɵɥɚ ɨɰɟɧɤɚ ɡɧɚɱɢɦɨɫɬɢ ɤɨɥɢ
-ɱɟɫɬɜɟɧɧɨɝɨ ɨɩɪɟɞɟɥɟɧɢɹ ɝɢɩɟɪɦɟɬɢɥɢɪɨɜɚɧɢɹ ɩɟɪɜɨɝɨ ɷɤɡɨɧɚ ɝɟɧɚ DKK4 ɜ ɤɚɱɟɫɬɜɟ ɛɢɨɦɚɪɤɟɪɚ ɨɩɭɯɨɥɟɜɨɣ
ɬɪɚɧɫɮɨɪɦɚɰɢɢ ɷɩɢɬɟɥɢɚɥɶɧɵɯ ɤɥɟɬɨɤ ɦɨɥɨɱɧɨɣ ɠɟɥɟɡɵ ɛɨɥɶɧɵɯ ɚɞɟɧɨɤɚɪɰɢɧɨɦɨɣ 2-3 ɫɬɚɞɢɢ.Ⱥɧɚɥɢɡ ɦɟɬɢ
-ɥɢɪɨɜɚɧɢɹ ɛɵɥ ɩɪɨɜɟɞɟɧ ɦɟɬɨɞɨɦ ɤɨɥɢɱɟɫɬɜɟɧɧɨɝɨ ɩɢɪɨɫɟɤɜɟɧɢɪɨɜɚɧɢɹ ɫ ɢɫɩɨɥɶɡɨɜɚɧɢɟɦ ɧɚɛɨɪɚ PSQ96MA
ɮɢɪɦɵ Qiagen. ɍɫɬɚɧɨɜɥɟɧɨ, ɱɬɨ ɫɨɞɟɪɠɚɧɢɟ ɦɟɬɢɥɢɪɨɜɚɧɧɨɣ ȾɇɄ ɝɟɧɚ DKK4 ɜ ɨɛɪɚɡɰɚɯ ɬɤɚɧɢ ɚɞɟ
-ɧɨɤɚɪɰɢɧɨɦɵ ɦɨɥɨɱɧɨɣ ɠɟɥɟɡɵ ɡɧɚɱɢɬɟɥɶɧɨ ɜɵɲɟ,ɱɟɦ ɜ ɨɛɪɚɡɰɚɯ ɧɟɢɡɦɟɧɟɧɧɨɣ ɬɤɚɧɢ ɦɨɥɨɱɧɨɣ ɠɟɥɟɡɵ,ɜɡɹ
-ɬɵɯ ɨɬ ɷɬɢɯ ɠɟ ɛɨɥɶɧɵɯ. Ɍɚɤ ɫɨɞɟɪɠɚɧɢɟ ɦɟɬɢɥɢɪɨɜɚɧɧɨɣ ȾɇɄ ɩɪɢ ɪɚɤɟ ɦɨɥɨɱɧɨɣ ɠɟɥɟɡɵ ɜ ɫɪɟɞɧɟɦ
ɫɨɫɬɚɜɢɥɨ 36,8±12,63 ɩɪɨɰɟɧɬɚ,ɬɨɝɞɚ ɤɚɤ ɜ ɨɛɪɚɡɰɚɯ ɭɫɥɨɜɧɨ ɧɨɪɦɚɥɶɧɨɣ ɬɤɚɧɢ ɦɨɥɨɱɧɨɣ ɠɟɥɟɡɵ – 19,37±7,1
ɩɪɨɰɟɧɬɚ,ɪ0,01. ɂɡ 23 ɨɛɪɚɡɰɨɜ ɬɤɚɧɢ ɚɞɟɧɨɤɚɪɰɢɧɨɦɵ ɦɨɥɨɱɧɨɣ ɠɟɥɟɡɵ ɜɵɫɨɤɢɣ ɭɪɨɜɟɧɶ ɫɨɞɟɪɠɚɧɢɹ ɦɟ
-ɬɢɥɢɪɨɜɚɧɧɨɣ ȾɇɄ ɩɟɪɜɨɝɨ ɷɤɡɨɧɚ ɝɟɧɚ DKK4 ɛɵɥ ɜɵɹɜɥɟɧ ɜ 20 ɨɛɪɚɡɰɚɯ (86,96 %, ɪ0,01); ɜ 3 ɨɛɪɚɡɰɚɯ ɭɪɨ
