hi dear all enjoy the following Mendelian and Non-Mendelian Patterns of Inheritance Introduction to Imprinting Q: The terms dominant and recessive are used to describe which of the following? A. Genotype B. Phenotype C. Karyotype D. Homozygosity E. Heterozygosity A: B Q: If someone with Genetic Disease A has a 90% chance of co-inheriting a specific allele of a polymorphic marker, then: A. The marker and the disease gene are 90cM apart. B. There is a 10% chance of unlinking them during recombination. C. There is a 90% chance of unlinking them during recombination. D. The marker and the disease gene are 20cM apart. E. Not enough information to determine the linkage relationship between the marker and the disease gene. A: B Q: The human embryo receives all of the following from the oocyte except: A. plasma membrane B. haploid nuclear genome C. mmRNA D. mitochondria E. centrosome A: E Molecular Genetics of Human Disease Q: All of the following is a feature of alpha1-antitrypsin deficiency EXCEPT: A. Autosomal recessive disorder B. Causes emphysema C. Has two major mutant alleles (S and Z) D. Disease is more severe in non-smokers vs. smokers E. Leads to increase elastase activity in the lung. A: D Q: Huntington Disease is caused by? A. An autosomal recessive mutation B. A novel mutation which causes a marked decrease in the half-life of the huntingtin mRNA C. A novel mutation wich results in a triplet expansion of trinucleotide CGG D. A novel mutation which encodes a polyglutamine track within the huntingtin protein E. A novel mutation which resides within the untraslated portion of the huntingtin mRNA A: D Q: Fragile X syndrome displays a pattern of inheritance known as the Sherman paradox. What does the term Sherman paradox refer to? A. the risk of the disease decreases with successive generations B. the disease is caused by non-disjunction C. the risk of disease is higher if the mother is the carrier (rather than the father) D. the disease displays an autosomal dominant inhertance pattern with reduced penetrance A: C Q: A person with congenital glucose-6-phosphate dehydrogenase deficiency: A. Is most likely female B. Has an increased risk to develop anemia if given anti-malarial drugs like primaquine C. Has an increased risk of contracting malaria D. Has an increased resistance to the effects of oxidative stress in his/her red blood cells. A: B Q: True statements about Huntington Disease include: A. Is an example of an autosomal dominant disease. B. Is an example of a delayed onset disease C. Causes memory loss and motor problems D. Is caused by triplet expansion of the trinucleotide (CAG) E. All of the above. A: E Q: When cells from a heterozygous females are cultured for glucose-6-phosphate dehydrogenase analysis, it is found that some of the cells carried the A form or the B form of the enzyme but never both. What is the mechanism for this? A. Sherman Paradox; via maternal chromosome B. X-chromosome inactivation; via maternal chromosome C. Sherman Paradox; via either maternal or paternal chromosome D. X-chromosome inactivation; via either maternal or paternal chromosome E. Sherman Paradox; via paternal chromosome A: D Q: All of the following are true for Huntington’s Disease EXCEPT: A. The disease manifests with symptoms of memory loss, personality changes, and severe motor problems. B. It is autosomal dominant with 100% penetrance. C. It is caused by a novel mutation that involves expansion of a trinucleotide CAG) called a triplet expansion in the 5’ untranslated region of the mRNA. D. It has a delayed onset with an average of 37 years. A: C Meiosis – Gametogenesis Q: Which of the following characteristics is unique to male (not female) gametogenesis? A. Meiosis produces haploid gametes B. Meiosis begins at the onset of puberty C. Crossing over occurs during meiosis I D. Developing gametes arrest during the pachytene stage of prophase I E. The first meiotic division involves the separation of homologous chromosomes A: B Q: Which of the following is NOT a characteristic of an androgen insensitivity syndrome? A. No uterus B. Breasts are present C. Testosterone is produced D. MIF is not produced E. Testes are present A: D Q: From the choices below, which is the correct order in which meiosis occurs? A. Recombination --> Pairing of homologous chromosomes --> DNA replication --> Separation of sister chromatids --> Separation of Sister Chromatids B. DNA replication --> Pairing of homologous chromosomes --> Recombination --> Separation of homologous chromatids --> Separation of Sister --> Chromatids C. Pairing of homologous chromosomes --> DNA replication --> Recombination --> Separation of homologous chromosomes --> Separation of Sister --> Chromatids D. Recombination --> DNA replication --> Pairing of homologous chromosomes --> Separation of homologous chromosomes --> Separation of sister --> chromatids E. DNA replication --> Pairing of homologous chromosomes --> Recombination --> Separation of homologous chromosomes --> Separation of Sister --> chromatids A: E Cytogenetics Sex Determination and Differentiation Q: A 25 year-old female patient has been diagnosed with Congenital Adrenal Hyperplasia. She is pregnant. Increased maternal androgen may result in which of the following in the fetus? A. atrophy of the Mullerian (paramesonephric) ducts. B. atrophy of the Wolffian (mesonephric) ducts. C. virilization of the Wolffian (mesonephric) ducts. D. virilization of the Mullarian (paramesonephric) ducts. E. A and C Correct Answer: C Genetic Imprinting and X-Chromosome Inactivation Q: Which of the following human diseases involving parental imprinting and methylation are CORRECTLY matched with an associated underlying mechanism? A. Angelman Syndrome-loss of maternal 15p11-13 B. ICF Syndrome-hypermethylation of centromeric satellite repeats results in instability of chromosomes during mitosis C. Rett Syndrome-X-linked recessive disorder involving mutations in the methylation- specific binding protein MECP2 D. Beckwith-Weidemann Syndrome-loss of maternal imprint at 11p15 E. Fragile X Syndrome-expansion of CGC triplet repeat in 5’ untranslated region of FMR1 A: D Q: A paternally imprinted gene is expressed: A. Only from paternal chromosome B. Only from maternal chromosome (correct answer p. 67 syllabus) C. Thru biallelic expression D. From maternal and paternal chromosomes E. None if the above A: No Answer Given Human Genomics Q: Generation of a physical map of the human genome involves mapping of unique sequences, also called sequence-tagged site (STS). The major role of these unique sequences is to: A. Generate a linkage map B. Determine the co-segregation of a disease phenotype with specific SNP alleles located near the candidate gene C. Identify a physical marker, or polymorphism, which is co-inherited with the genetic disease D. Order YACs and BACs for rapid cloning and subcloning of candidate disease genes E. All of the above A: D Q: Physical mapping of the human genome employs: A. linkage frequencies B. Restriction Fragment Length Polymorphisms C. Sequence-tagged sites D. Bacterial artificial chromosomes E. Both A and B F. Both C and D A: F Q: Restriction Fragment Length Polymorphisms (RFLPs) are: A. variable numbers of simple repeating DNA sequence B. single nucleotide polymorphisms that change the length of a restriction fragment C. part of the natural variation in DNA sequence among unrelated individuals D. A and B E. B and C A: E Q: Genetic distances shown on a genetic map are obtained by determining the: A. frequency of recombination between genes. B. number of base pairs between restriction sites. C. location of chromosomes in the nucleus. D. number of chromosomes in the genome A: A Q: The frequency of recombination between 2 markers ___________ with increasing distance between the markers. A. Decreases B. Increases C. Stays constant D. Stays constant, then decreases E. Cannot be determined A: B Gene Therapy Q: The “most abundant class of genes,” currently thought to distinguish the sophistication of human biology from that of other organisms, are those that code for_________? A. Transcription Factors B. Cell Membrane Proteins C. Mitochondria D. All of the above E. None of the above A: A Q: Which of the following regarding gene therapy is true? Some human germline gene therapy protocols are being approved by the FDA Transformation is an efficient method of introducing DNA into the cell By definition, DNA injected via microinjection will be integrated into specific regions of the genome. Gene size is an important consideration when using viral vectors Somatic gene therapy benefits will be passed on to offspring A: D Q: Which of the following methods are used to introduce DNA into mammalian cells? A. Microinjection B. Transduction C. Transformation D. None of the above E. All of the above A: E Q: Regarding the limitations of gene therapy, the following are true EXCEPT: A. Less than 20% of cells incorporate the injected gene into their genome using the microinjection process. B. The use of retroviral vectors poses a risk of mutagenesis due to random insertion of the gene of interest into the host genome. C. Transformation of naked DNA requires another gene that will confer a selective advantage to transformed cells. D. Most gene therapy methods target germ cells and therefore pose ethical concerns. E. It is not possible to selectively replace a defective human gene with a non-defective version. A: D Clinical Genetics Q: Which of these statements it not true. Maternal Serum Alpha-feto-protein (MSAFP) A. level are increased in fetuses with open spinal bifida, who also are noted to have elevated amniotic fluid AFP B. level are increased in fetuses with Down syndrome in women < 35 years old C. screening is not as sensitive for detecting neural tube defects when compared to direct analysis of amniotic fluid AFP D. level is elevated in fetuses with abdominal wall defects E. can be elevated as a result of twin gestation A: B. Fetuses with DS have lower levels of AFP, lower uE3 and higher levels of hcG (triple marker). Together the triple marker and maternal age can help predict risk of DS. Q: Elevated Maternal Serum AFP (MSAFP)may indicate: A. abdominal wall defects B. neural tube defects C. trisomy 21 D. A and B E. all of the above A: D Q: Which of the following methods allows sampling of the fetus' blood directly? A. Fetal Echocardiography B. Amniocentesis C. Chorionic Villus Sampling (CVS) D. Percutaneous Umbilical Blood Sampling (PUBS) E. None of the Above A: D Q: Which of the following categories of defects describes patients with a recognized pattern of malformation that causes them to look more like each other than like their own family? A. Association B. Syndrome C. Dysplasia D. Disruption E. disassociation A. syndrome Learning Response: Refer to syllabus pages 94-95. Dr. Towner used the example of Down Syndrome and described the physical characteristics of people with this defect causing them to look more like each other than their own relatives. Female Reproductive Function Q: Which of the following statements is FALSE in terms of anovulatory menstruation. A. Ovulation does not occur but bleeding did occur. B. A dominant follicle forms but no estrogen is produced. C. Estrogen continues to stimulate endometrial proliferation causing the endometrium to get thicker and thicker. D. Bleeding can be heavy and prolonged due to absence of underlying ovulatory mechanism of vasospasm. E. Dysmenorrhea is not usually present since prostaglandins are not involved. A: B Q: Which of the following is true for an anovulatory menstrual cycle? A. an ovum is released on day 14 of the menstrual cycle B. menses (bleeding) does not occur C. estrogen continues to stimulate endometrial proliferation D. none of the above E. all of the above A: C In anovulatory menstrual cycle, bleeding does occur but there is no release of the ovum. Estrogen continues to stimulate endometrial proliferation. Q: Which of the following occurs during the FOLLICULAR or PROLIFERATE PHASE? A. formation of corpus luteum B. increased mitotic activity of endometrial tissues C. peak in progesterone levels D. Both A, B, and C E. Neither A, B, or C A: B increased mitotic activity of endometrial tissues (A and C occur post ovulation) Q: The following is true of Hcg (human chorionic gonadotrophin) EXCEPT: A. Rescues the corpus luteum B. Continues to produce estrogen C. Prevents spasms and endometrial breakdown D. Alpha subunit aids in decidualization of endometrium (increased glycogen and lipids) E. None, all of the above are true A: B Q: Which of the following hormonal effects during the menstrual cycle is INCORRECT? A. Elevated estrogen levels trigger the LH surge. B. LH causes vasoconstriction of the spiral arteries if no implantation occurs. C. Progesterone prepares the endometrium for implantation. D. FSH rescues 1-2 developing primordial follicles from atresia. E. hCG stimulates the corpus luteum to continue producing progesterone after implantation. A: B Learning Response: The decline of estrogen and progesterone around day 25 cause vasoconstriction of the spiral arteries (if no implantation occurs.) Q: Which of the following is true for an anovulatory menstrual cycle? A. an ovum is released on day 14 of the menstrual cycle B. menses (bleeding) does not occur C. estrogen continues to stimulate endometrial proliferation D. none of the above E. all of the above A: No Answer given Q: Ovarian function will lead to growth in all of the following areas, EXCEPT: A. skeletal muscle B. thelarche C. adrenarche D. menarche A:: adrenarche, answer found on page 98 on the syllabus. "Adrenarche is independent of ovarian function." Q: Which of the following is independent of ovarian function? A. Menarche B. Menorrhagia C. Dysmenorrheal D. Adrenarche E. thelarche A:: D Development of axillary and pubic hair is independant of ovarian function Q: After the onset of puberty, what first occurs during the next 2 years? A. Adrenarche B. Telarche C. Growth spurt D. Menarche E. Menorrhagia A: C Maternal Adaptation to Pregnancy Q: In pregnant woman: A. uterus undergoes dramatic change in size, shape and position B. progesterone, estrogen, human chorionic somatomammotropin, and relaxin play major role in physiological alterations C. maternal blood volume begins to increase at about 6 weeks’ gestation. D. Risk of thromboembolic disease increases E. All of the above A: e Q: For the first eight weeks of pregnancy, progesterone is made by the _____________. Afterwards, it is made by the ______________, causing ovulation to ______________. A. zygote, placenta, stop B. corpus luteum, placenta, stop C. corpus luteum, placenta, begin D. placenta, corpus luteum, stop E. placenta, corpus luteum, begin A: B Q: Choose the answer that best completes the following sentence: Pregnant women experience hormonal changes in _______________ which promotes uterine relaxation, ______________ which promotes smooth muscle relaxation, ________________ which antagonizes the effect of insulin, and _______________ which promotes sodium retention. A. Progesterone, human placental lactogen, estrogen, relaxin B. Human placental lactogen, estrogen, relaxin, progesterone C. Relaxin, progesterone, human placental lactogen, estrogen D. Estrogen, relaxin, progesterone, human placental lactogen E. Progesterone, human placental lactogen, estrogen, relaxin A: C Relaxin, progesterone, human placental lactogen, estrogen Reference: See page 120 of syllabus: Hormonal Changes section Q: Which of the following systemic adaptations is not observed during pregnancy? A. increase in maternal vascular volume B. decrease in cardiac output C. increase in oxygen consumption D. decrease in FRC A: B -- there is actually an increase in cardiac output due to an increase in stroke volume and heart rate during pregnancy Q: Ovarian pathology(ies) can occur during pregnancy? A. pregnancy luteoma B. hyperreactio luteinalis C. cysts on the ovary D. A & B E. all of the above A: E) all of the above Explanation: Pregnancy luteoma and hyperreactio luteinalis are ovarian tumors restricted to pregnancy. Multiple cysts can occur on the ovaries during the first trimester of pregnancy, but usually resolve by the second trimester. Linkage Analysis Q: In Linkage Analysis, it is important that: A. Both parent must be affected B. Penetrance of the disease must be 100% C. The affected parent or carrier parents must be heterozygous at the marker locus D. The affected parent or carrier parents must be homozygous at the marker E. The marker locus must be as far as possible to the disease gene A: C Q: All of the following statements are TRUE regarding the use of polymorphic loci in disease gene diagnosis, EXCEPT: A. Polymorphic markers derive from the natural variation in DNA sequences among different members of a population. B. A disease gene is identified on the basis of linkage to a marker locus located close to the disease gene. C. The polymorphic marker is usually the cause of the disease phenotype D. The vast majority of polymorphic human DNA sequences are not found in exons. E. To be useful, there must exist two or more alleles of the marker locus. A: C Q: Which of the following is/are true about linkage-based diagnosis? A. The affected parent or carrier parents must be heterozygous at the marker locus. B. The affected parent or carrier parents must be homozygous at the marker locus. C. Diagnosis depends on the distance in cM between the disease gene and the end of the chromosome. D. Diagnosis does not depend on the penetrance of the disease. E. All of the above A: A Q: All of the following are properties of polymorphic markers EXCEPT: A. RFLPs, SSRs, and SNPs are all classes of polymorphic markers B. A polymorphic marker that is 15 cM away from the disease has a 15% chance of recombination C. A significant number of polymorphic markers can be found in exons D. A polymorphic marker has two or more alleles of the marker locus E. The affected parent must be heterozygous at the marker locus in order to be able to use linkage-based disease analysis. A: C Contraception Q: All of the following statements concerning oral contraceptives are false except: A. Oral contraceptives differ mostly in their estrogen, not progestin, components B. Oral contraceptives have a failure rate near 14% C. Oral contraceptives use estrogen components to hinder ovum implantation D. Oral contraceptives have been definitively shown to increase triglyceride levels E. Oral contraceptives have been definitively shown to increase the risk of cancer A: D OBGYN Infections Q: Which of these female genital infections is NOT considered to be sexually transmitted? A. Gonorrhea B. Trichomonas C. Yeast infections D. Genital herpes E. Chlamydia A: C Q : All of following regarding Bacterial Vaginosis (BV) are true except: A. It is very common and is not considered to be sexually transmitted B. It results from a shift in bacteria from the normal lactobacilli to an anaerobic bacterial environment. C. It requires only 1 of the following symptoms or signs to diagnose BV: 1. Homogenous, white discharge that smoothly coats the vaginal wall. 2. Presence of Clue Cells on Wet Mount 3. pH of vaginal fluid > 4.5. 4. Fishy odor of vaginal discharge (“whiff test”) D. The chief symptom is vaginal discharge or offensive vaginal odor E. It can be treated with antibiotics for 7 days A: C. It requires 3, not 1, of the symptoms that are mentioned on C to diagnose BV. Q : Which of the following statements about chlamydia trachomatis is FALSE? A. It is the leading preventable cause of blindness in the world. B. Most infected women are asymptomatic. C. Untreaded chlamydia can cause infertility. D. Sexually active teenagers and women under the age of 25 should have regular screening tests for chlamydia. E. There is no treatment for chlamyida. A: No Answer Given Q : The following diseases require antibiotic treatment of both your patient, and his or her sex partner(s): Chlamydia Gonorrhea Bacterial Vaginosis A and B All of the above A: D Normal & Abnormal Uterine Bleeding Q: One cause of pregnancy-related bleeding is an ectopic pregnancy. Where is the most common site of an ectopic pregnancy? A. Ovary B. Oviduct C. Cervix D. Abdomen E. Mesometrium A: B oviduct (uterine tube, fallopian tube) Q: One cause of pregnancy-related bleeding is an ectopic pregnancy. Where is the most common site of an ectopic pregnancy? A. Ovary B. Oviduct C. Cervix D. Abdomen E. Mesometrium A: B Q: Dysmenorrhea is caused by which of the following: A. prostaglandin B. estrogen C. FSH / LH D. All of the above A: A. Prostaglandin. The generation of prostaglandin causes uterine contractions and the pain associated with menses. Q Which of the following is NOT an option for treating abnormal uterine bleeding? A. Progestins B. Oral Contraceptives C. GNRH agonists D. Estrogen E. Non-steroidal anti-inflammatory drugs A: D Labor Q: Which type of pelvis is ideal for vaginal childbirth? A. Gynecoid Pelvis B. Android Pelvis C. Anthropoid Pelvis D. Platypelloid Pelvis A: A Gynecoid pelvis is round to oval shape with straight sidewalls, wide pubic arch, spines not angle in, flat sacrum, and transverse diameter at the ischial spines is 10 cm or more. Thus, there is a lot of room for the baby to move through. (Syallbus p.150) Q: Which of the following would not be included in an admitting Labor and Delivery assessment examination? A. Membrane status B. Station C. Presenting part D. Friedman curve E. Cervical consistency, F. Cervical effacement G. Cervical dilation A: D Friedman curve Explanation: The Friedman curve marks the progress of labor with time on the x axis and dilation on the y axis. It is used to compare the progress of one woman’s labor with the average progression of labor to help determine whether there is prolonged or arrested phases.