Young spouses found high levels of phenylalanine in the blood. They underwent appropriate treatment and blood counts were close to normal. The couple turned to the medical genetic consultation with the question: what is the probability of having a child with phenylketonuria? 0% 25% fifty % *one hundred % 75% Young spouses, cousins of the siblings, had a baby, sick with the amurotic idiocy of Tay-Sachs. In their family, on the father's side, there was a case of the birth of a child with an amavrotic idiocy. What is the probability of having a sick child in this family? fifty%. * 25%. 75% twenty%. one hundred%. Analysis of amniotic fluid cells for sex chromatin showed that fetal cells do not contain sex chromatin bodies (Barr bodies). What disease was diagnosed in the fetus? Trisomy. Klinefelter's syndrome. Down's disease. Patau Syndrome. * Shereshevsky-Turner syndrome. There are 45 chromosomes in the mother karyotype. It is established that this is due to the translocation of the 21st chromosome to the 15th. What disease is the child most likely to have if the father’s karyotype is normal? * Down syndrome. Klinefelter's syndrome. Patau Syndrome. Edwards Syndrome. Morris's Syndrome. A child was born in the maternity hospital with numerous disorders, both of the external and internal organs - the heart, kidneys, digestive system. The diagnosis was made - Patau syndrome. What method of human genetics can confirm this diagnosis? Dermatoglyphics. Gemini. Genealogical. Biochemical. * Cytogenetic. Healthy parents had a child with Down syndrome with a karyotype of 46 chromosomes. However, one of the group D chromosomes had an elongated short arm. What is the cause of the disease? Trisomy for the 18th pair of chromosomes. Balanced translocation. * Unbalanced translocation of an extra 21 chromosomes. Trisomy on the 15th pair of chromosomes. Monosomy on the X chromosome. Mucopolysaccharidosis refers to diseases of accumulation. Due to the lack of enzymes, the breakdown of polysaccharides is disrupted. Patients have an accumulation and increased excretion of them in the urine. What organelles accumulate mucopolysaccharides? * Lysosomes. Golgi complex. Endoplasmic reticulum. Mitochondria. Cell center. In the cells of the human body, the intensity of DNA and RNA synthesis is reduced, the synthesis of the necessary proteins is disrupted, the mitotic activity is negligible. Most likely, such changes correspond to the period of ontogenesis: Teenage Young age. *Elderly age. Beginning of adulthood. Youthful. The renewal of the lost organ begins with the lysis of the tissues adjacent to the wound, the intensive reproduction of the cells of the regenerative anlage, and the differentiation of the cells leads to the formation of the organ. What kind of regeneration are we talking about? * Epimorphosis. Morpholaxis. Endomorphosis. Regenerative hypertrophy. Heteromorphosis. During spermatogenesis, germ cells form, which have moved to an area where their size is significantly increased due to an increase in the amount of cytoplasm. What are these cells called? * Primary spermatocytes. Secondary spermatocytes. Spermatogonia Spermatids. Sperm. In Wilson-Konovalov disease, it accumulates in the tissues of the brain and liver and causes their degeneration: Phosphorus. Phenylalanine. *Copper. Tyrosine. Lipids. The idiogram of the male body karyotype is analyzed. In the diploid set of a normal somatic cell, pairs of homologous chromosomes were found: 44 pairs. 23 pairs. 24 pairs. 46 pairs * 22 pairs. Karyotyping of cells of a healthy person is carried out. A small acrocentric unpaired chromosome was found in the karyotype. It could be: * Y chromosome. X chromosome. Chromosome group A. Chromosome group B. Chromosome group C. A patient with signs of skin damage under the influence of ultraviolet radiation was diagnosed with pigment xeroderma. What is the mechanism of this pathology? * Violation of DNA repair. Tyrosinase deficiency. Pleiotropic effect of the gene. Phenylalanine hydroxylase deficiency. Dominant mutation. The children in one family are analyzed. One of the parents is homozygous for the dominant polydactyly gene, and the second is healthy (homozygous for the recessive gene). In this case, the law will appear in children: * Uniform hybrids of the first generation. Cleavage of hybrids. Independent inheritance. Gamete purity. Linked inheritance. Suppose that in humans, blood groups of the Rh system are determined by the interaction between two genes of the same locus. These genes form and determine: Three genotypes and four phenotypes. Four genotypes and two phenotypes. * Three genotypes and two phenotypes. Six genotypes and four phenotypes. Six genotypes and six phenotypes. For all forms of reproduction (sexual and asexual), elementary discrete units of heredity are: * One gene. One pair of nucleotides. One strand of a DNA molecule. One nucleotide. Two strands of a DNA molecule. A healthy girl was born in the parents of patients with hemoglobinopathy (an autosomal dominant type of inheritance). What are the genotypes of parents? The father is heterozygous for the hemoglobinopathy gene; this gene is absent in the mother. Mother is heterozygous for the hemoglobinopathy gene; in the father, this gene is absent. Both are homozygous for the hemoglobinopathy gene. * Both are heterozygous for the hemoglobinopathy gene. Both parents have no hemoglobinopathy gene. A married couple approached the doctor, where the wife has a normal structure of the hand, and the husband suffers from polydactyly, asking whether it is possible to inherit this anomaly by their unborn child, and their first child has a normal structure of the hand. The polydactyly gene is known to be dominant. What is the likelihood of having a six-fingered baby in a given couple? 0% 25% *fifty% 75% one hundred% Inability to perceive the taste of phenylthiocarbamide (FTK) is inherited as an autosomal recessive trait. In people who are not able to perceive the taste of FTK, the most common thyroid tumor. In taste perceivers, FTC most often develops hyperthyroidism. In which of the following marriages is the highest risk of thyroid tumor in children? AA x AA * aa x aa Aa x aa Aa x aa Aa x aa Mother and father were phenotypically healthy and heterozygous for the genotype. They had a sick child in whose urine and blood phenylpyruvic acid was found. In this regard, a preliminary diagnosis was made - phenylketonuria. Indicate the type of inheritance of this disease: * Autosomal recessive. X-linked recessive. Autosomal dominant. Linked to the Y chromosome. X-linked dominant. What blood types of parents in the Rhesus system are possible Rhesus-conflict situations during pregnancy? Female Rh +, male Rh + (homozygous) Female Rh +, male Rh + (heterozygous) * Female Rh-, male Rh + (homozygous) Female Rh-, Male RhFemale Rh + (heterozygote), male Rh + (homozygote) A Rh-positive woman with blood type I married a Rh-negative man with blood type IV. In which case is it possible for a newborn to develop hemolytic disease? Rh-positive baby. Rhesus negative baby. The father is heterozygous for the Rh factor gene. The father is homozygous for the Rh factor gene. * No answer meets the condition. Genetically healthy parents had a child with phenylketonuria (an autosomal recessive disease). What are the genotypes of parents? * Aa x Aa. AA x AA. AA x AA. Aa x aa. aa x aa. In a woman with Rh-negative blood of group III, a child was born with a blood group IV, who had hemolytic disease due to Rhesus conflict. What blood types and Rh factor are possible in the father of the child? * II, Rh (+). II, Rh (-). IV, Rh (-). I, Rh (+). III, Rh (+). A woman was admitted to the hospital who urgently needs a blood transfusion. The analysis showed that the woman has a blood group I Rh (-). What blood type and Rh factor should the husband of this woman have in order for her son to become a donor for her? IV (AB) Rh (+) IV (AB) Rh (-) * I (0) Rh (-) Any. There is no correct answer. It is known that the gene responsible for the development of blood groups according to the ABO system has three allelic positions. The appearance of a blood group in humans IV can be explained by this form of variability: Mutational. * Combinative. Phenotypic. Genocopy. Phenocopy. Inheritance of blood groups is determined by the type of gene interaction. Parents have a second and third blood group, and their child has a first. What kind of gene interaction underlies this phenomenon? * Full dominance. Incomplete dominance. Complementary interaction of genes. Codomination. Polymerism. Human skin color is controlled by several pairs of unlinked genes interacting, as an additive polymer. Skin pigmentation in humans with the AAVBCS genotype will be: * Black (Negroid.) White (Caucasoid). Yellow (Mongoloid). Brown (mulatto). Albino (no pigmentation). Deafness can be caused by different recessive alleles "a" and "b", which are located in different pairs of chromosomes. A deaf man with the aaBB genotype married a deaf woman who had the AaBB genotype. They had four children. How many were deaf? One. Two. Three. *No one. Four. Changes in the chemical structure of a gene can occur in different parts of it. If such changes are compatible with life, that is, do not lead to the death of organisms, then they are saved in the gene pool of the species. What are the different variants of one gene called? * Multiple alleles. Phenocopies. Genocopies. Cistrons. Plasmids Nonspecific blood inheritance, known as the "Bombay phenomenon" is due to: Codification. Complementarity. * Recessive epistasis. Dominance. Dominant epistasis. After exposure to mutagen, three chromosomes less than normal were found in the metaphase plate of a person. The specified mutation relates to : * Aneuploidy. Polyploidy. Politenia. Inversions. Translocation. A genetically healthy woman who underwent viral measles rubella during pregnancy had a deaf child with cleft upper lip and palate. This is a manifestation of: Combinational variability. Gene mutations. Genocopies. * Phenocopies. Chromosomal aberration. Residents of the Carpathian region, due to iodine deficiency in food products, have endemic goiter. This disease is a consequence of: Chromosomal aberration. Combinational variability. * Modification variability. Gene mutation. Genomic mutation. Healthy parents had a son with phenylketonuria, but thanks to a special diet, he developed normally. What forms of variability are associated with his illness and recovery? The disease - with a dominant mutation, recovery - with modification variability. The disease - with a recessive mutation, recovery - with combinational variability. The disease - with a chromosomal mutation, recovery - with phenotypic variability. * Disease - with a recessive autosomal mutation, recovery - with modification variability. Disease - with combinative variability, recovery - with phenocopy. Microcephaly was detected in a newborn. Doctors believe that this is due to the use of actinomycin D. by a woman during pregnancy. What germ layers did teratogen act on? Endoderm and mesoderm. All leaflets. Endoderm. Mesoderm. * Ectoderm. In the DNA molecule, nucleotide changes are observed at the transcription level. What diseases can this lead to? Chromosomal diseases. * Gene diseases. Genomic diseases. Anomalies of autosomes. Abnormalities of sex chromosomes. A structural gene mutation has occurred. The number of nucleotides has changed in it: instead of 90 base pairs, it has become 180. This: * Duplication. Inversion. Deletion. Translocation. Transversion Mutagenic factors can have a specific form of influence. For example, acridines induce reading frame shifts due to insertion or loss of nucleotides. What are mutations associated with an increase or decrease in genetic material? Genocopies and phenocopies. Leading and retarded. * Duplications and deletions. Spontaneous and induced. Inherited and non-inherited. One of the forms of rickets is inherited by a dominant type. Both men and women are ill. This disease is a consequence of a mutation: * Gene. Genomic. Chromosomal. Polyploidy. Aneuploidy. The tendency to diabetes is caused by an autosomal recessive gene. This gene appears only in 20 % of homozygotes. This partial manifestation of the trait is an example of the following gene property: * Penetrance. Dominance. Expressivity. Discreteness. Recessivity. The tendency to diabetes is caused by an autosomal recessive gene. This gene appears only in 20 % of homozygotes. What is the likelihood that the child will have diabetes if the father is sick with this form of diabetes and the mother is the bearer of the diabetes addiction gene? fifty%. 75% *10%. 25% one hundred%. The fact that the same genotype can become a source of the development of different phenotypes is essential for medicine, because aggravated heredity may not necessarily occur, it depends a lot on the conditions in which the person is. The degree of manifestation of the trait during the implementation of the genotype in different environmental conditions is: Penetrance. Heredity. Mutation. Reaction rate. * Expressivity. The hepatitis B virus gene, which is responsible for the formation of HBsAg, has been integrated into the vaccinia virus genome. The recombinant virus is planned to be used as a vaccine. What type of vaccine is obtained in this way? Combined. Associate. * Genetic engineering. Synthetic. Chemical. In a person with sickle cell anemia, biochemical analysis showed that in the chemical composition of the hemoglobin protein, glutamic acid was replaced by valine acid. Determine the type of mutation: * Gene. Genomic. Aneuploidy. Deletion. Chromosomal. Mothers who have suffered some diseases during pregnancy (toxoplasmosis, rubella) are more likely to have children with defects and injuries (cleft palate, cleft lip, etc.). What is this manifestation of? Genocopies. Genomic mutations. Chromosomal mutations. Gene mutations. * Phenocopies. An analysis of the family tree with cases of tooth abnormalities (dark enamel) showed that the disease is transmitted from the mother to daughters and sons alike, and from the father only to daughters. What type of inheritance is this? Codominant. Autosomal recessive. X-linked recessive. Autosomal dominant. * X-linked dominant. The patient turned to a medical genetic consultation for asthma. A geneticist doctor, having studied the patient’s pedigree, came to the conclusion that this is a multifactorial disease. What is the coefficient of heredity of the disease? H = 0. * H = 0.55. H = 1. H = 0.23. H = 0.8. When studying the family tree of a family in which hypertrichosis is observed, it is noted that this symptom is found in all generations only in men and is inherited from father to son. Define the type of inheritance: * Linked to the Y chromosome. Autosomal recessive. Autosomal dominant. X-linked recessive. X-linked dominant. Deaf-mute parents with the DDee and ddEE genotypes gave birth to children with normal hearing. What is the form of interaction of genes D and E? * Complementarity. Dominance. Epistasis Polymerism. Overdomination. In a family of students who came from Africa, a child was born with signs of anemia, who soon died. The examination showed that the red blood cells of the child had an abnormal lunar shape. Determine the likely genotypes of the parents of the child, if it is known that they suffer from a mild form of this disease? * Aa x Aa. Aa x aa. AA x AA. aa x aa. Aa x aa. A woman came to the medical-genetic consultation about the risk of hemophilia in her son. Her husband has been suffering from this disease since birth. A woman and her parents are healthy for hemophilia. Determine the likelihood of the disease in the boy in this family. All the boys will be sick. * All boys will be healthy. 50% of boys will be sick. 25% of boys will be sick. 75% of boys will be sick. The spouses asked the medical genetic consultation about the likelihood of having children with hemophilia. The couple is healthy, but the father of the wife is hemophilic. Hemophilia can get sick: All children. Sons and daughters. Only daughters. Half of the daughters. * Half sons Hypertrichosis is a trait linked to the Y chromosome. The father has hypertrichosis, and the mother is healthy. In this family, the probability of having a child with hypertrichosis is: 0.25. 0.125. 0.625. one. * 0.5. A man suffering from a hereditary disease married a healthy woman. They had 5 children: three girls and two boys. All girls inherited their father’s illness. What type of inheritance of this disease? Autosomal recessive. Autosomal dominant. Linked to the Y chromosome. * Linked to the X chromosome, dominant. Recessive linked to the X chromosome. A person with a male karyotype has a female phenotype. What is this syndrome? Down Syndrome. * Morris syndrome. Marfan's syndrome. Klinefelter's syndrome. Shereshevsky-Turner Syndrome. In humans, a recessive lethal gene linked to the X chromosome causes resorption of the embryo in the early stages of embryo development. Which of the possible zygotes of the carrier of such a gene is not capable of development? XAXa. X A U. * X and U. XAXA. Not a single one. What could be the cause of hemophilia in the son of a traumatologist who often used a portable x-ray machine without using X-ray protective equipment? Inheritance from father. * Inheritance from previous generations. Inheritance from the mother. X-ray irradiation of the father. Environmental pollution. Which of these human diseases are hereditary and monogenic : Hypertension. Stomach ulcer. Polio. Hymenolipedosis. *Hemophilia. Albinism is observed in all classes of vertebrates. This hereditary pathology is also found in humans and is characterized by a gene that has autosomal recessive inheritance. A manifestation of what law is the presence of albinism in humans and in representatives of vertebrate classes: * Homological series of hereditary variation N.I. Vavilova. Biogenetic Haeckel-Muller. Uniform hybrids of the 1st generation Mendel. Independent inheritance of Mendel’s traits. Morgan's chained inheritance. In the 50s in Western Europe, mothers who took thalidomide as sleeping pills had several thousand children with missing or underdeveloped limbs, skeletal structure disorders, and other deviations. What is the nature of this pathology? Monosomy. Trisomy. * Phenocopy. Genocopy. Gene mutation. As a result of the influence of radiation, a section of the DNA chain turned 180 degrees. Which of the following types of mutations occurred in the DNA chain: Duplication. *Inversion. Deletion. Translocation. Replication. We study a unicellular parasite with a set of chromosomes 2n = 24, propagating by schizogony. The genetic diversity of individuals in the population will be (excluding mutations): 24 types. 32 types. * 1 type. 128 types. 256 types. After exposure to colchicine, forty-six chromosomes were found to be higher than normal in the human metaphase plate. The specified mutation relates to: * Polyploidy. Aneuploidy. Politenia. Inversions. Translocation. In the family, father and son are sick with hemophilia A. Mother is healthy. Indicate the genotypes of the parents. X H X H x X h Y. X H X h x X H Y. * X H X h x X h Y. X h X h x X H Y. AaBb x aabb. The girl was found to have an imbalance in the body, pterygoid folds of skin on her neck. During cytogenetic studies, “drumsticks” were not found in the nuclei of leukocytes, and Barr bodies were absent in the nuclei of the buccal epithelium. Preliminary diagnosis: * Shereshevsky-Turner syndrome. Klinefelter's syndrome. Down Syndrome. Patau Syndrome. Edwards Syndrome. The proband has fused toes. His three sons also had finger-jointed fingers, while his two daughters had normal fingers. Sisters proband have normal fingers. The brother and father also have fused fingers. What is the name of the transmitted characteristic? * Dutch. Dominant. Recessive. Allelic. Expressive. Excessive hairiness of the auricles (hypertrichosis) is determined by a gene localized in the Y chromosome. This sign has a father. The probability of having a boy with such an anomaly: 75% 0% 25% 35% *one hundred%. The following pathology was found in a newborn child: an anomaly in the development of the lower jaw and larynx, which is accompanied by characteristic changes in the voice, as well as microcephaly, heart disease, four-fingered. The most likely cause of such anomalies is a deletion: 21st chromosome. * The short arm of the 5th chromosome. The short arm of the 7th chromosome. The short arm of the 9th chromosome. The short arm of the 11th chromosome.
