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2 423 521

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(51)

IPC

C12N15/00(2006-01-01)

(21) (22)

Application

2009139324/10, 2009-10-27

(24)

Start date

2009-10-27

(22)

Actual filing date

2009-10-27

(45)

Published

2011-07-10

(72)

Inventor

Zakharova Ekaterina Jur'EvnaVoskoboeva Elena Jur'EvnaPankratova Elizaveta VladimirovnaStepchenko Aleksandr GeorgievichNasedkina Tat'Jana Vasil'EvnaChudinov Aleksandr Vasil'EvichGeorgieva Sofija Georgievna

(73)

Holder

Uchrezhdenie Rossijskoj Akademii Nauk Institut Molekuljarnoj Biologii Im. V.A. Ehngel'Gardta RanRossijskaja Federatsija, Ot Imeni Kotoroj Vystupaet Ministerstvo Obrazovanija I Nauki Rossijskoj Federatsii

BIOCHIP FOR MUTATION DETECTION IN GALACTOSE-1-PHOSPHATE-URIDYL TRANSFERASE GENE CAUSING HEPATIC INVOLVEMENT IN NEWBORNS Russian patent published in 2011 - IPC C12N15/00

Abstract RU 2423521 C1

FIELD: medicine.

SUBSTANCE: biochip enabling diagnosing type I galactosemia is produced. Also, a method of using the produced biochip for detecting point mutations in GALT gene is offered. The given method involves a two-round multiplex PCR to produce a one-chained fluorescent marked DNA fragment; hybridisation on the biochip containing a set of oligonucleotides; analysis of the results.

EFFECT: invention extends the range of technological products used in diagnosing type I galactosemia.

3 cl, 34 dwg, 23 tbl, 6 ex

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RU 2 423 521 C1

Authors

Zakharova Ekaterina Jur'Evna

Voskoboeva Elena Jur'Evna

Pankratova Elizaveta Vladimirovna

Stepchenko Aleksandr Georgievich

Nasedkina Tat'Jana Vasil'Evna

Chudinov Aleksandr Vasil'Evich

Georgieva Sofija Georgievna

Dates

2011-07-10—Published

2009-10-27—Filed