молекулы полипептидной цепи

 

230. Complementary DNA represents:молекулы ДНК, комплементарные последовательностям и-РНК

231. Polymerase chain reaction (PCR) is:процесс амплификации фрагментов молекулы ДНК

232. Transgenic organisms are:организмы, полученные путем внесения фрагментов экзогенной ДНК в ядро организма-реципиента

233. Methods of molecular biology are:электрофоретический

234. Polymerase chain reaction (PCR) is used for: для размножения в большом количестве участка ДНК

235. Southern blot – hybridization is used for: для идентификации фрагментов ДНК

236. Genetics studies: закономерности наследственности и изменчивости

237. Allelic genes are characterized by: разные формы одного гена, расположены в гомологичных хромосомах, отвечают за одинаковые признаки

238. Non – allelic genes are characterized by: расположены в различных локусах гомологичных хромосом, отвечают за разные признаки

239. Homozygote organisms are characterized by: аллельные гены в гомологичных хромосомах одинаковые

240. Heterozygotic organisms are characterized by: аллельные гены отвечают за развитие альтернативных признаков

241. Define type of inheritance of sign, if it arises over generation mainly in man, healthy parents may born sick children: сцепленный с половой Х- хромосомой, рецессивный

242. Sign repressing occurrence of alternative sign in heterozygotes is:доминантный

243. Sign arising only in homozygotes is:рецессивный

244. Type of inheritance of sign showing up intermediate phenotype in heterozygote calls:неполным доминированием

245. Type of inheritance of signs (diseases) may be: аутосомным и сцепленным с полом

246. Breeding of homozygotic organisms distinguishing by one pair of alternative signs in case of complete dominancy is characterized in F₁ by:доминирование и единообразие

247. Genes, localized in autosomes, may inherit from: от матери мальчикам и девочкам

248. Autosomal recessive inheritance is characterized: от здоровых родителей рождаются больные дети

249. Probability of borning sick children with autosomal recessive pathology in mating of heterozygotic parents forms:25 %

250. Some forms of polydactyly (additional fingers) are inherited by autosomal dominant type. What is probability of borning of sick children in mating of two heterozygotes by this gene:75 %

251. Achondroplasia is autosomal dominant disease. What is theoretical probability of borning sick children in mating of two heterozygotes:75 %

252. One of genetical form of deafness causes by recessive gene. From mating of deaf woman with normal mom borned deaf child. What is probability of borning health child:50 %

253. Woman homozygotic by phenylketonurea gene without clinical manifestation of disease married to heterozygotic man. What is probability of borning sick children in family:50 %

254. Autosomal dominant inheritance is characterized by: наследование признака из поколения в поколение аутосомными генами

255. Autosomal recessive inheritance is characterized: наследование признака от обоих родителей гомозиготами

256. Autosomal recessive inheritance is characterized: больные дети гомозиготны по мутантному гену

257. X – linked recessive inheritance is characterized: носительством гена здоровыми лицами женского пола

258. Define type of inheritance sign if it is manifested over generation independently from sex, sick children born from healthy parents:аутосомно-рецессивный

259. Autosomal inheritance of diseases result in borning in family:больных мальчиков и девочек

260. Crossing – over takes place in:пахитене, мейоза I

261. Genes A, B and C are linked genes. Distance between genes A and B is 5 morganids, between A and C – 3 morganids. Define order of localizing genes in chromosome: АСВ

262. Genes A, B and C are linked genes. Distance between genes A and B is 5 morganids, between A and C – 3 morganids. Define distance between genes B and C: 2 морганиды

263. The main states of chromosomal theory are: расстояние между генами в хромосоме не зависит от частоты кроссинговера между ними

264. Recombitive variability takes plase in:

265. Signs linked with Y – chromosome are inherited:по мужской линии

266. X – linked recessive signs are characterized: женщины – здоровые носители мутантного гена

болеют чаще мужчины

267. Haemophilia is X – linked recessive disease. If mother is heterozygote (X^HX^h) by mutant gene, probability of manifestation of haemophilia in sons consists: 50 %

268. Haemophilia is X – linked recessive disease. If mother is heterozygote (X^HX^h) by mutant gene, probability of manifestation of haemophilia in daughters consists: 0 %

269. Haemophilia is X – linked recessive disease. Define genotype of sick woman: 46, Х ^hХ ^h

270. Daltonism is X – linked recessive disease. If mother is heterozygote by mutant gene (H^DH^d), probability of manifestation of daltonism in sons consists: 50 %

271. Define type of inheritance of haemophilia:

272. Medico – genetical consultation of family revealed disease inherited by male line. Define type of inheritance of disease:

273. Give the definition of pleiotropy:

274. Penetrance is:

275. Expressivity is:

276. Parents have II and III blood groups and are homozygotes. What blood groups will have their children:

277. Define genotypes of people with IV blood group by ABO system, presence antigens and antibodies:

278. Define correct combination of genotypes, presence of antigens and antibodies in people with I and IV blood group by ABO system:

279. Boy have I blood group, his sister – IV blood group. Define possible blood groups in their parents:

280. Define genotypes presence of antigens and antibodies in people with II blood group by ABO system:

281. Polymery is called:

282. Define forms of interaction of allelic genes

283. Epistasis is:

284. Blood groups of people by ABO system are controlled:

285. Colour of hair of rabbits controls by series of allelic genes, acting by order: a⁺>a ^ch>a ^h>a. Define genotype of chinchilla rabbits:

286. Codominance represents interaction of genes characterized by:

287. Forms of interaction of allelic genes:

288. Forms of interaction of non – allelic genes:

289. Two dominant genes (H and A) are localized in X – chromosome. Products (proteins) of these genes take part in blood coagulation. The same role plays another dominant P gene. Absence of activity of any of these genes leads to development of haemophilia. Define form of interaction between X^A, H^H and P genes:

290. Blood groups by ABO system are coded by two dominant I^A, I^B and recessive I^O genes. Define persons with IV blood group and form of interaction of alleles:

291. Colour of feathers of hens depends from interaction of two dominant non – allelic genes: gene C, synthesing pigment and gene I repressing synthesis of pigment. Define genotypes of coloured hens:

292. Colour of feathers of hens depends from interaction of two dominant non – allelic genes: gene C, synthesing pigment and gene I repressing synthesis of pigment. Choose correct combination of genotypes of white hens:

293. «Bombay phenotype» is characterized by interaction of two non – allelic gene by type:

294. AB (IV) blood group is example of interaction of:

295. «Bombay phenotype» is results from interaction of:

296. Interferon synthesis depends from activity of two genes localized in 2 and 5 chromosomes. Call form of interaction between these genes:

297. Development of normal hearing in man defines by complementary interaction of two dominant non allelic genes (D and E). Choose correct combination of genotypes of deaf people:

298. Define correct combination of genotypes people with II and III blood groups by ABO system:

299. Parents have I blood group. What genotypes and blood groups may have their children:

300. Parents have IV blood group (AB). What blood groups may have their children:

301. Parents have II and III blood groups and heterozygotes. What genotypes and blood groups may have their children:

302. Parents have I and IV blood groups. What blood groups may have their children:

303. Wild (gray) colour of mouses hair results from complementary interaction of two non-allelic dominant genes (A and B). Define combination of genotypes with wild colour of hair:

304. Blackcolour of hair of mouses results ifrour complementary interaction of dominant gene A with recessive gene – b. Define correct combination of genotypes of mouses with black colour of hair:

305. White colour of hair of mouses determined by recessive allele of gene (a) independently frour gene B (dominant or recessive), Define correct combination of genotypes of albinoses:

306. In questionable cases determination of fatheness may be based on definition of blood groups by ABO system. Child has II (A) blood group, his mother – III (B), both are heterozygotes. What blood group must has proposed father to exclude his fatherness:

307. Parents have A (II) and B (III) blood groups. Wife is heterozygote, husband – homozygote. Define possible blood groups of children:

308. Parents have O (I) and AB (IV) blood groups. Define possible blood groups of children

309. Haemolytic disease of new borns arises due to in compatibility of blood groups of parents by rhesus system. In what cases sick child may born:

310. Spouses have II (A) blood group and are heterozygotes. What blood groups may have their children:

311. Spouses have O (I) and A (II) (heterozygote) blood groups. Define possible blood groups of their children:

312. Blood groups by ABO system are example of interaction of genes:

313. Blood groups by ABO system are example of interaction of genes:

314. I (O) blood group by ABO system characterizes by presence of:

315. Find forms of interaction of allelic genes:

316. Types of interaction of allelic genes:

317. Development of normal hearing and speech results from complementary interaction of:

318. Persons with O (I) blood groups by ABO system contain in genotype, on the surface of erythrocytes and plasma of blood:

319. Persons with A (II) blood group (homozygotes) contain in genotype, on the surface of erythrocytes and blood plasma:

320. Persons with III (B) blood group (heterozygotes) by ABO system contain in genotype, on the surface of erythrocytes and blood serum:

321. Persons with AB (IV) blood group by ABO system contain in genotype, on the surface of erythrocytes and blood serum:

322. Define correct combination of persons with blood group by ABO system which are universal donors and recipients:

323. Rhesus conflict pregnancy and naemolytic disease of newborn may develops in case of:

324. Penetrance of autosomal dominant disease is 50 %. What is probability of borning of sick child, if one of parents is healthy, another – sick and heterozygote:

325. Penetrance of autosomal dominant disease is 50 %. What is probability of borning of sick child, if one of parents is healthy, another – sick and homozygote:

326. Normal hearing of man develops due to complementary interaction of two dominant genes (A and B). Define genotypes of deaf people:

327. Normal hearing of man develops due to complementary interaction of two dominant genes (A and B). Define genotypes of normal people:

328. Some forms of cataract inherited in an autosomal -dominant pattern. Penetrance of the gene is 50%. What are the chances of children inherit sick cataract in a family where one parent has this pathology and heterozygous:

329. Normal hearing person is controlled by two dominant genes (E and D) located in different pairs of chromosomes.Define the type of interaction and genotypes deaf individuals:

330. Ontogenesis-is:

331. Prenatal ontogenesis includes periods:

332. Cellular processes underlying of ontogenetic development:

333. Early ontogenetic development is characterized by:

334. Ooplasmatic segregation is

335. Early ontogenetic development is characterized by processes:

336. Oocyte polarity:

337. According to positional information:

338. Germ is called fetus in time of pregnancy:

339. Ontogenetic development controls by:

340. Embryonic cells after the first division are called:

341. “ Housekeeping” genes are characterized:

342. Mutations with maternal effect are called mutations arising in:

343. Homeotic mutations are called mutations which disturb processes of:

344. Homeotic mutations lead to disturbance of:

345. In intrauterine period activity of genes controlling synthesis is observed:

346. First critical period of prenatal ontogenesisis characterized by:

347. The second critical period of prenatal ontogenesis is characterized by:

348. Exogenic teratogenic factors may be:

349. Teratogenesis – is process of:

350. Define embryopathies:

351. The third critical period of antenatal ontogenesis coincides with:

352. Periods of high sensitivity in antenatal ontogenesis are:

353. Actions of what factor in early stages of pregnancy can leads to violation of ontogenetic development:

354. Congenital malformations result from action of teratogenic factors in:

355. Define correct combination of embriopathies:

356. Define correct combination of blastopathies:

357. Define correct combination of fetopathies:

358. Classification of congenital malformations:

359. Define multiple congenital malformations:

360. Define systemic congenital malformations:

361. Congenital malformations can arise due to action of:

362. Birth of children with congenital malformations may be due diseases of pregnant women:

363. Define the correct list of diseases of pregnant women which result in arising of congenital malformations:

364. Define correct combination of medicines acting as teratogens:

365. Medicines having teratogenic effects:

366. Factors of external and internal environment which are teratogenic factors. Teratogenic factors are factors causing:

367. Define environmental teratogenis factors:

368. Biological teratogenic environmental factors are:

369. Critical periods of ontogenesis are characterized by:

370. Prevention of occupational diseases includes

371. Prevention and restriction of smoking, alcohol abuse directed at

372. Smoking is permitted in

373. Implementation of alcoholic beverages is prohibited

374. Prevention of dependence from psychoactive medicines includes

375. Demographic indicators characterizing population:

376. Evolutionary factors maintaining polymorphism (heterogeneity) of population:

377. Genetic factors decreasing polymorphism (heterogeneity) of populatia

378. Factors maintaining constancy of gene frequencies in populations

379. Electoral marriage, in which individuals with certain characteristics make a couple more frequently than usually is called:

380. Conditions under which Hardy-Weinberg equilibrium implements:

381. Factors limiting panmixia in human populations:

382. Inbreeding – is:

383. Consanguinuos marriages result in:

384. Outbred marriages are:

385. Factors that increase the genetic heterogeneity of the population:

386. Components of adaptation of individuals in the population are

387. Action of natural selection by recessive diseases results:

388. Action of natural selection against dominant disease leads to:

389. Action of natural selection in haemolytis disease of newborn is example of action:

390. Types of populations:

391. Demografic factors influencing on genetical structure of populations:

392. Factors increasing genetical polymorphism of population:

393. Decreasing of variety of genes and genotypes takes place due to:

394. Adaptation of population defines by:

395. Natural selection against recessive genes:

396. Natural selection against dominant genes:

397. Mutations lead to:

398. Elementary evolutional processes in populations are:

399. Formation of genetic lood in populations depends from:

400. Genetic load of populations decreases in cases of:

401. Genetic load of population forms next diseases:

402. Formation of genetic load of population connected with:

403. Action of natural selection in populations results in:

404. Migration (exchange of genes between populations) results in:

405. Gene drift (occasional changes of frequency of genes) in population results in:

406. Increasing of frequency of mutations of population results in:

407. Factors causing formation of genetic load of population are:

408. Phenylketonurea is autosomal recessive diseases. Population frequency 1:10 000 newborns. What is frequency of recessive gene in population:

409. Ecogenetics is science studying:

410. Pollutants having mutagenic activity are:

411. Regions of ecological unprosperity of Kazakhstan are:

412. Health of population living zones of ecological unprosperity characterizes:

413. Indicators of influence of ionized radiation on genetical health of population are:

414. Price for pollution of environment includes next components:

415. Indicators of influence of ionizing radiation on humans are:

416. Ecological system consist from:

417. Biogeocenosis includes:

418. Ecological systems have next stages of development:

419. Into system of the public sanitary and epidemiologic service enter:

420. The state sanitary and epidemiologic rationing includes:

421. Documents of the state system of sanitary and epidemiologic rationing:

422. Hygienic standard is:

423. Sanitary and epidemiologic requirements are established for:

424. Sanitary and epidemiologic requirements:

425. In the sphere of sanitary and hygienic wellbeing of the population first time made and first time imported next products need state registration:

426. Sanitary and epidemiologic monitoring is:

427. For sanitary protection of the territory of Kazakhstan aren't allowed import of:

428. Prevention of infections and parasytic diseases based on:

429. Genetic stability incase of action of biological factors – malariamplasmodies are observed:

430. Haemolytic anemia develops in some people eating beans due to deficiency of enzymes:

431. Pharmacogenetics studies effectiveness of medicines depending from:

432. Pharmakokinetics of medicines depends from:

433. Genetic control of reaction of organism on entering of medicines may realizes by:

434. People are differentiated on groups depending of velocity of inactivation of isoniazide – antituberculose medicina:

435. Homozygotes by recessive allel of pseudocholinesterase gene are:

436. Metabolism of galotan – narcosis ingalational gas controls by:

437. Genetic porphyria – desease of liver develops due to:

438. Hereditary methaemoglobinaemia is:

439. Hereditary pathology of livear – porphyria develops due to disturbance of metabolism of products of dissociation of haemoglobin (porphyrins) in case of entering of medicines:

440. Entering of which medicines provoke attack of metgaemoglobinemia:

441. Hereditary forms of jaundice inherits by:

442. Hereditary forms of jaundice develop after using medicines:

443. Akatalasia – rare hereditary disease developing in persons having in genotype mutant alleles and in case of entering:

444. Akatalasia – rare hereditary disease developing in case of entering:

445. In newborns next types of mutations is observed:

446. Family by with sick child, age 4, consults by geneticist. Child had mild mental retardation. Examination revealed flat face, mongoloid shape of eyes, epicant, low location of ears. Karyotype was 47, XY, 21+. Put diagnosis:

447. Woman, age 30 consults by gynecologist. She complains on primaryamenorrhoea, unfertility. Examination revealed short stature (145 sm), wing folds of neck, underdevelopment of secondary sex signs. Karyotype is 45, XO. Put diagnosis:

448. Newborn baby has multiple congenital malformations of excretory and respiratory systems and unusual cry. Karyotype 46, XY, 5p -. Put diagnosis:

449. Pregnant woman, 45 age, consults by geneticist. Ultrasound study revealed multiple congenital malformations in embryo. Karyotype 47, XY, 13+. Put diagnosis:

450. Syndromes characterizing by numerical changes of sex chromosomes

451. Diseases arising due to changes of number of autosomal chromosomes characterize:

452. Main clinic – morphological sing of Down syndrome are:

453. Causes of arising of chromosomal disease:

454. Define chromosomal disease:

455. Chromosomal diseases determined by changes of number and structure of chromosomes phenotypically characterize by:

456. Polysomies of sex chromosomes characterize by:

457. Most important signs of genetic diseases are:

458. Chromosomal diseases may recognize by next clinical signs:

459. Causes of genic diseases are:

460. Causes of genic diseases are mutations accompanied by:

461. To hereditary haemoglobinopathy belong:

462. Monogenic diseases by type of inheritance classify:

463. Define correct list of diseases belonging to enzymopathies:

464. Prevention of clinical signs of disease successfully uses in:

465. Patient has increased liver and spleen. Clinico – laboratory analysis established substantial decreasing of cerulloplasmin in blood. Put correct diagnosis:

466. Type of inheritance of disease is autosomal – dominant with incomplete dominancy. Homozygotes have heavy form of disease, heterozygotes – subclinical form. Blood analysis shows change of erythrocyte’s form. Put correct diagnosis:

467. Define correct combination of monogenic diseases:

468. Types of inheritance of hereditary diseases:

469. To mendelian diseases belong:

470. Hereditary diseases caused by mutation in single gene characterize by signs:

471. High sensibility of some people to ultraviolet light results in pigment xeroderma causes by:

472. Polygenic signs (diseases) alco call:

473. Recognise polygenic diseases:

474. To multifactorial diseases belong:

475. To diseases with hereditary predis position belong:

476. Interaction of genetical and environmental factors leads to development of diseases:

477. Polygenic diseases characterize by:

478. Methods of study of medical genetics:

479. Methods of diagnosis of genetical diseases:

480. Methods of diagnosis of chromosomal diseases:

481. Genetical defects of metabolism diagnose by methods:

482. Children of one parent pair in pedigree call:

483. Changes of number of chromosomes diagnose by methods:

484. Genealogical method allow to establish:

485. Cytogenetical method use to diagnose:

486. Proband has hypertonia (high blood pressure). His mother, maternal father (grandfather of proband) and his brother (uncle of proband) also have the same disease. Proband father, his parents and sibs are healthy. Spouse of proband is healthy, her relatives are healthy too. Define type of disease:

487. Methods of prevention of genetical diseases:

488. Methods of treatment of chromosomal diseases:

489. Mass screening programs directed to:

490. Conditions of carrying out of screening programs are:

491. Mass screening of newborns for revealing hereditary defects of metabolism carryes out in time:

492. What diseases allow to reveal in newborns:

493. Method of prevention of genetic diseases is:

494. Screening programs divide on:

495. Screening programs is directed to:

496. Selective (assortative) screening of genetical defects of metabolism carries out in group of children having:

497. Medico – genetical consultation is:

498. Indications (reasons) for medico – genetical consultation:

499. Prospective medico – genetical consultation is:

500. Indications (reasons) for medico – genetical consultation:

501. Retrospective medico – genetical consultation carry out:

502. Prospective medico –genetical consultation need:

503. Pregnant woman comes to medico – genetical consultation. She has child with isolated cleft lip. What type of hereditary pathology is this malformation:

504. Pregnant woman having son with haemophilia consults by geneticist. Father healthy, brother of woman also ills by haemophilia.Sex of intrauterine embryon unknown. Define genetical risk for him:

505. Spouses came to medico – genetical consultation. Husband has achondroplasia (autosomal dominant disease) and is heterozygote. Their first child healthy.Penetrance of gene 80 %. What is genetical risk for next child in family:

506. Mother having two sick children (boy and girl) with the same pathology of breathing. Parents of children are healthy. Define type of inheritance and recurrence risk:

507. Spouses having sick child with autosomal dominant disease consult. Parents are healthy, age of mother – 25, of father – 45. Define possible causes of child disease:

508. Young spouses, consistingin consanguenuos marriage, without children, consult. What type of medico – genetical consultation takes place and assessment of genetical risk in future:

509. Woman having child with Down syndrome consults. Karyotype of child is 46,t 13/21. What methods of diagnosis consultant recommends:

510. Medical secret is:

511. Transmission of information that is medical secret to another people is allowed:

512. Transmission of information that is medical secret to another people is not allowed:

513. Submission of information that is medical secret is allowed without the patient’s agreement:

514. Submission of information that is medical secret is possible without the patient’s agreement:

515. Conditions of medical secret compliance:

516. The state guarantees for the citizens of the RK rights for:

517. The state guarantees for the citizens of the Republic of Kazakhstan rights for:

518. Citizens of the RK have rights for:

519. Citizens of the Republic of Kazakhstan have rights for:

520. A woman has right:

521. The right for the protection of maternity is guaranteed:

522. Citizens are obliged to:

523. Pregnant women:

524. A patient has a right for:

525. Information could be hide from the patient:

526. Genetic risk may be:

527. Genetic risk is calculated for:

528. Empirical risk is calculated for:

529. Medico – genetical consultation of family revealed two sick children with autosomal dominant diseases. Grandfather and aunt of children have the same disease, father is healthy. Penetrance of gene is 80 %. What is recurrence risk of borning of sick child:

530. Amniocentesis is:

531. Define combination of straight methods of prenatal diagnosis:

532. Time of carrying out of amniocentesis:

533. To invasive methods of prenatal diagnosis belong:

534. Carrying out of medico – genetical consultation is necessary for:

535. To noninvasive methods of prenatal diagnosis belong:

536. Prenatal diagnosis by amniocentes carries out in time:

537. Indirect methods of prenatal diagnosis belong:

538. To noninvasive methods of prenatal diagnosis belong:

539. Characteristics of amniocentesis:

540. Preimplantational diagnosis is characterized by: