Krok 1 – 2014 Base(Biology)

A man suffering from a hereditary disease married a healthy woman. They got 5 children, three  girls and two boys. All the girls inherited their father’s disease. What is the type of the disease  inheritance?

A couple has a son with haemophilia. The parents are healthy but the maternal grandfather also  has haemophilia. Specify the type of inheritance:

Examination of newborns in one of the Ukrainian cities revealed a baby with phenylketonuria.  The baby’s parents don’t suffer from this disease and have two other healthy children. Specify  the most likely parents’ genotype with phenylketonuria gene:

It was proved that a molecule of immature mRNA (precursor mRNA) contained more triplets  than amino acids found in the synthesized protein. The reason for that is that translation is  normally preceded by:

Examination of a patient revealed reduced contents of magnesium ions that are necessary for  attachment of ribosomes to the granular endoplasmatic reticulum. It is known that it causes  disturbance of protein biosynthesis. What stage of protein biosynthesis will be disturbed?

According to the data of WHO, for about 250 mln of Earth population fall ill with malaria. This  disease is mostly spread in tropical and subtropical regions. Range of its spread falls into the  areal of the following mosquitoes:

Labeled aminoacids alanine and tryptophane were introducted to a mouse in order to study  localization of protein biosynthesis in its cells. Around what organellas will the accumulation of  labeled aminoacids be observed?

In some regions of South Africa there is a spread sickle-shaped cell anemia, in which  erythrocytes have shape of a sickle as a result of substitution of glutamin by valine in the  hemoglobin molecule. What is the cause of this disease?

A female patient consulted a physician about digestive disorder, extended abdominal pain.
Examination revealed drastic decrease in hemoglobin concentration. It is known from the  anamnesis that while living in the Far East the patient used to eat freshly-salted caviar. Some  relatives living with her had the similar condition. What is the most likely diagnosis?

In the perianal folds of a 5-year-old girl her mother has found some white “worms” that caused  itch and anxiety in the child. The “worms” were sent to the laboratory. During examination the  physician saw white filiform helminths 0,5-1 cm long, with pointed ends, some helminths had  twisted ends. What is the most likely diagnosis?

A pregnant woman had been having toxicosis with severe repeated vomiting for 24 hours. In the  end of the day there appeared tetanic convulsions and fluid loss. What shift of acid-base state  caused these changes?

Medical examination at the military registration and enlistment office revealed that a 15-year-old  boy was high, with eunuchoid body proportions, gynecomastia, female pattern of pubic hair  distribution. The boy had also fat deposits on the thighs, no facial hair, high voice, subnormal  intelligence quotient. Which karyotype corresponds with this disease?

A 26-year-old female consulted a doctor about having stool with white flat moving organisms  resembling noodles. Laboratory analysis revealed proglottids with the following characteristics:  long, narrow, with a longitudinal channel of the uterus with 17-35 lateral branches on each side.  What kind of intestinal parasite was found?

RNA that contains AIDS virus penetrated into a leukocyte and by means of reverse  transcriptase forced a cell to synthetize a viral DNA. This process is based upon:

According to the model of double DNA helix that was suggested by Watson and Creek, it was  established that one of chains would not be lost during replication and the second chain would  be synthesized complementary to the first one. What way of replication is it?

A teenager was irradiated with high radiation dose that resulted in serious damages of lymphoid  system, lysis of many lymphocytes. Restoration of normal hemogram is possible due to the  functioning of the following gland:

It was revealed that T-lymphocytes were affected by HIV. Virus enzyme – reverse transcriptase  (RNA-dependent DNA polymerase) – catalyzes the synthesis of:

Autopsy of a newborn boy revealed polydactylia, microcephalia, cheiloschisis and uranoschisis  as well as hypertrophy of parenchimatous organs. These defects correspond with the  description of Patau’s syndrome. What is the most probable cause of this pathology?

An ovary specimen stained by hematoxylin-eosin presents a follicle, where cells of follicular  epithelium are placed in 1-2 layers and have cubic form, there is a bright-red membrane around  the ovocyte. What follicle is it?

A patient has symptoms of inflammation of urogenital tracts. Examination of a vaginal smear  revealed big monocellular, pear-shaped organisms with the pointed spike at the posterior end of  body, big nucleus and undulating membrane. What protozoa were found in the smear?

During regular examination of schoolchildren it was revealed that a 10 year old girl had asymmetric oval eggs with a larva in the scrape from her perianal folds. What diagnosis should  be made?

A woman delivered a dead child with multiple developmental defects. What protozoan disease  might have caused the intrauterine death?

Tuberculosis can be treated by means of combined chemotherapy that includes substances with different mechanisms of action.What antituberculous medication inhibits transcription of RNA  into DNA in mycobacteria?

A patient experienced a sudden temperature rise up to 390С. After 6 hours the temperature  normalized. On the 2-nd day the attack recurred: in the period of paroxysm the temperature  reached 410С, apyrexial period began after 8 hours. What type of temperature profile is it?

Larvae were detected occasionally on the microscopic examination of the sputum of the patient  with pneumonia. Eosinophiles were detected on the blood examination. What helminthiasis can  be diagnosed?

You are studying functioning of a bacteria operon. The operator gene has been released from  the repressor gene. Immediately after this the following process will start in the cell:

While studying maximally spiralized chromosomes of human karyotype the process of cell  division was stopped in the following phase:

It is known that the gene responsible for development of blood groups according to AB0 system  has three allele variants. If a man has IV blood group, it can be explained by the following  variability form:

A patient complains of pain in the area of his liver. Duodenal intubation revealed yellowish, oval,  narrowed at the poles eggs with an operculum at the end. Size of these eggs is the smallest  among all helminth eggs. What is the most probable diagnosis?

A patient consulted an urologist about pain during urination. Analysis of his urine taken in the  daytime revealed eggs with a characteristic sharp point. It is known from the anamnesis that the  patient has recently returned from Australia. What is the most likely diagnosis?

A child complains of general weakness, loss of appetite, a troubled sleep, itching in the perianal  area. The provisional diagnosis is enterobiasis. In order to specify this diagnosis it is necessary to perform:

In course of practical training students studied a stained blood smear of a mouse with bacteria  phagocyted by leukocytes. What cell organella completes digestion of these bacteria?

A woman with ІІІ (B), Rh- blood group born a child with ІІ (A) blood group. The child is diagnosed with hemolytic disease of newborn as a result of rhesus incompatibility. What  blood group is the child’s father likely to have?

According to the phenotypic diagnosis a female patient has been provisionally diagnosed with  X-chromosome polysomia. This diagnosis can be confirmed by a cytogenetic method. What  karyotype will allow to confirm the diagnosis?

Two days after consumption of smoked pork a patient got face and eye-lid edemata, gastrointestinal disturbances, abrupt temperature rise, muscle pain. Blood analysis showed  full-blown eosinophilia. What helminth could the patient be infected with?

A lymph node punctate of a patient with suspected protozoal disease was examined. Examination of the stained specimen (Romanovsky’s stain) revealed some crescent bodies with pointed end, blue cytoplasm and red nucleus. What protozoan were revealed in the smears?

A patient complains of skin itch, especially between fingers, in the inguinal creases, on the lower abdomen. Examination of these regions revealed there some small vesicles. Laboratory diagnostics allowed to establish that this condition had been caused by a representative of  Arthropoda. Specify the disease caused by this arthropod:

A patient has acne on his face. Microspcopic examination of scrapings from the affected areas  revealed living porrect vermiform arthropoda 0,2-0,5 mm large with four pairs of short extremities in the front part of their bodies. What is the laboratory diagnosis?

A family of students who came from Africa got a child with anemia signs. The child died soon. Examination revealed that the child’s erythrocytes have abnormal semilunar shape. Specify  genotypes of the child’s parents:

Examination of cell culture got from a patient with lysosomal pathology revealed accumulation of  great quantity of lipids in the lysosomes. What of the following diseases is this disturbance  typical for?

A 39-year-old woman has madescence in the region of mammilla, a small ulcer with  inflammatory hyperemia and cutaneous edema. Histologic examination of tissue sampling from  this area revealed in the malpighian layer of thickened epidermis atypical cells with light and  optically empty cytoplasm, with no intracellular bridges. Such cells were also found in the orifice  of big mammal gland ducts. What is the most probable diagnosis?

Golgi complex exports substances from a cell due to the fusion of the membrane saccule with  the cell membrane. The saccule contents flows out. What process is it?

A patient working at a pig farm complains about paroxysmal abdominal pain, liquid feces with  admixtures of mucus and blood, headache, weakness, fever. Examination of large intestine  revealed ulcers from 1 mm up to several cm large, feces contained oval unicellular organisms  with cilia. What disease should be suspected?

A boy found a spider with the following morphological characteristics: it is 2 cm long, has  roundish black abdomen with two rows of red spots on its dorsal side; four pairs of jointed limbs  are covered with small black hairs. What arthropod is it?

Normal, actively dividing cells of human red bone marrow are analyzed. What number of cells’ chromosomes is typical for G1 period?

A man has worked in an African country for 3 years. A month after his return to Ukraine he  consulted an ophthalmologist and complained about eye ache, eyelid edema, lacrimation and  temporary visual impairment. Underneath the eye conjunctiva the doctor revealed helminths  30-50 mm long with elongated filiform body. What diagnosis might be suspected?

Life cycle of a cell includes the process of DNA autoreduplication. As a result of it monochromatid chromosomes turn into bichromatid ones. What period of cell cycle does this  phenomenon fall into?

An 18-year-old male has been diagnosed with Marfan syndrome. Examination revealed a  developmental disorder of connective tissue and eye lens structure, abnormalities of the  cardiovascular system, arachnodactylia. What genetic phenomenon has caused the
development of this disease?

A 28-year-old female patient consulted a gynecologist about sterility. Examination revealed  underdeveloped ovaries and uterus, irregular menstrual cycle. Analysis of the sex chromatin  revealed 2 Barr’s bodies in most somatic cells. What chromosome disease is most likely?

A cell at the stage of mitosis anaphase was stimulated by colchicine that inhibits chromosome separation to the poles. What type of mutation will be caused?

Examination of duodenal contents revealed some pyriform protozoa with twin nuclei and four pairs of flagella. There were two supporting filaments between the nuclei and a suctorial disc on  the ventral side. What representative of protozoa was revealed in this patient?

A shepherd who has tended sheep together with dogs consulted a doctor about pain in his right  subcostal area, nausea, vomiting. Roentgenoscopy revealed a tumour-like formation. What kind of helminthiasis might be suspected?

A patient in a transplantation centre underwent heart transplantation. The organ was taken from a donor who died in a road accident. Foreign heart can be rejected as a result of development  of transplantation immunity. It is usually prevented by means of:

Following exposure to radiation a lot of mutant cells appeared in a patient. Some time later most of them were detected and destroyed by the following cells of the immune system:

A gynaecologist was examining a patient and revealed symptoms of genital tract inflammation. A smear from vagina contains pyriform protozoa with a spine, flagella at their front; there is also an undulating membrane. What disease can be suspected?

A boy has I (I0I0) blood group and his sister has IV (IAIB) blood group. What blood
groups do their parents have?

For the purpose of myocardium infarction treatment a patient was injected with embryonal stem cells derived from this very patient by means of therapeutic cloning . What transplantation type is it?

An alcoholic woman has born a girl with mental and physical developmental lag. Doctors diagnosed the girl with fetal alcohol syndrome. What effect is the cause of the girl’s state?

Sex chromosomes of a woman didn’t separate and move to the opposite poles of a cell during gametogenesis (meiosis). The ovum was impregnated with a normal spermatozoon. Which chromosomal disease can be found in her child?

Hartnup disease is caused by point mutation of only one gene which results in disturbance of  tryptophane absorption in the bowels and its resorption in the renal tubules. It is the reason for  disorder of both digestive and urination systems. What genetic phenomenon is observed in this case?

Cytogenetic examination of a patient with reproductive dysfunction revealed normal karyotype 46 ХY in some cells, but most cells have karyotype of Klinefelter’s syndrome – 47 ХХY.  Such cell heterogenity is called:

In one of Polessye regions there was an outbreak of helminthiasis manifested by cramps and  facial edmata. The developed preventive measures in particular included ban for eating infested  pork even after heat processing. What helminthiasis was the case?

As a result of prophylactic medical examination a 7 year old boy was diagnosed with  Lesch-Nyhan syndrome (only boys fall ill with it). The boy’s parents are healthy but his grandfather by his mother’s side suffers from the same disease. What type of disease
inheritance is it?

A female patient saught medical-genetic consultation. Physical examination revealed pterygium  colli deformity (webbed neck), broad chest, underdeveloped breasts. Study of buccal epithelium  cells revealed no X-chromatin in the nuclei. This indicates that the patient has the following  syndrome:

A doctor revealed tissues injury on patient’s scalp with localized suppurations and diagnosed his disease as myiasis. This infestation is caused by larvae of the following insect:

A female suffered rubella during pregnancy. The child was born with developmental abnormalities, namely cleft lip and palate. The child’s genotype is normal. These malformations are a manifestation of:

During cell division, DNA replication occurs by a signal from the cytoplasm, and a certain portion of the DNA helix unwinds and splits into two individual strains. What enzyme facilitates this process?

As an example of specific human parasites one can name Plasmodium falciparum, human pinworm and some others. The source of parasite invasion is always a human. Such specific human parasites cause the diseases that are called:

A patient who has recently arrived from an endemic area presents with elevated body temperature, headache, chills, malaise, that is with the symptoms which are typical for a common cold. What laboratory tests are necessary to prove or to disprove the diagnosis of malaria?

Examination of the duodenal contents revealed some pear-shaped protozoa with two nuclei and four pairs of flagella. The organisms had also two axostyles between the nuclei and a ventral adhesive disc. What protozoan representative was found in the patient?