METHOD FOR DIAGNOSING 3-M SYNDROME YAKUT POPULATION Russian patent published in 2008 - IPC G01N33/50 C12Q1/68 

Abstract RU 2315310 C1

FIELD: medicine.

SUBSTANCE: method involves carrying out polymerization chain reaction study with original primers for detecting 4582 insT mutation (Arg1528Ser) in cullin7 gene ((CUL7), characteristic of Yakut population with Restriction Fragment Length Polymorphism-analysis being next done and restrictase HinfI being used. 218 n.p. and 175, 26 n.p. long fragments availability is thought to be pointer to mutant gene carriage in homozygotic state (disease). 218, 175, 114, 104 and 26 n.p. long fragments availability is thought to be pointer to mutant gene carriage in heterozygotic state (healthy mutation carrier). 175, 114, 104 and 26 n.p. long fragments availability is considered to be pointer to norm (healthy).

EFFECT: rapid and accurate diagnosis method.

4 dwg

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RU 2 315 310 C1

Authors

Maksimova Nadezhda Romanovna

Nogovitsyna Anna Nikolaevna

Sukhomjasova Ajtalina Lukichna

Dates

2008-01-20Published

2006-05-30Filed