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83 Cards in this Set
- Front
- Back
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The human genome contains how many genes?
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20,000 - 25,000
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When does a germinal mutation occur?
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during formation of an egg or a sperm
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________ is the study of biologically inherited traits determined by genes that are transmitted from parents to offspring during the course of reproduction
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Genetics
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________ are how the genes are transmitted from generation to generation
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chromosomes
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If a mutation occurs after conception it is termed?
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somatic mutation
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What is associated with different types of mutations?
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advanced maternal and paternal age
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When are phenotypes considered Mendelian? When are diseases considered Mendelian disorders?
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alterations at a single gene, monogenetic human diseases
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________ is the study of all the genes in a person as well as the interactions of these genes with one other & with the individual's environment
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genomics
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The _____ encodes a few of the proteins for oxidative metabolism and all of the ______ used in translation of proteins within this organelle.
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mitochondrial chromosome, transfer RNAs
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A change in DNA that could adversely affect the host that occurs after conception is termed _______
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mutation
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The three types of aneuploidy are?
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monosomy, trisomy, polysomy
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Autosomal recessive phenotypes are often associated with deficient activity of enzymes and, therefore, are termed _____
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inborn errors of metabolism
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Due to the presence of one X chromosome, males are said to be _______ for the mutant allele on that chromosome.
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hemizygous
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What should a good family history ask about?
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Medical history of all 1st degree relatives, and if possible more distant relatives
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What can be used to analyze Mendelian inheritance of certain traits?
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pedigree
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What is cytogentics?
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study of chromosomes utilizing light microscopy
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Once a particular gene is shown to be defective what can you do to determine the nature of the mutation?
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sequence the nucleotides and comparing this sequence with that of a normal allele
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What is the primary goal of biochemical testing?
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determine whether certain proteins are present or absent as well as to identify their characteristics and effectiveness in vitro
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Mating btw related individuals, also known as _______, is indicated with a double horizontal line in a pedigree diagram.
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Consanguineous
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Siblings of individuals who carry the recessive gene for albinism have a _____ chance of inheriting and being affected by this trait?
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25%
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In a _____, the chromosomes are rearranged systematically in pairs, from longest to shortest, and numbered from 1 (the longest) through 22.
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Karyotype
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_____ with a fluorescent probe is one method used to assess the degree of sequence identity as well as detect and locate specific sequences on a specific chromosome.
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Fluorescence in situ hibridization
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In the absence of _____, the amino acid phenylalanine accumulates and can lead to severe mental retardation.
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phenylalanine hydroxylase (PAH)
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What are the three stages of human development?
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pre-embryonic, embryonic, and fetal
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What are the primary germ layers in development? What do these layers function in doing?
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ectoderm, mesoderm, endoderm (beginning of embryonic development)
organogenesis |
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What percentage of successful fertilizations end in miscarriage or spontaneous abortion? What percentage of miscarriages occur without the woman's awareness?
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31%, 66%
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What is teratology?
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study of abnormal development, teratogens are anything capable of disrupting embryonic or fetal development and producing malformations
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When is the critical period for teratogenic effects during gestation?
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3 and 16 weeks of gestation
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What are three factors known to affect the likelihood and extent of teratogenesis?
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dosage, time of exposure, genotype of embryo
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What is one of the most common causes of acquired mental retardation?
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fetal alcohol syndrome
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What is effective for treatment of cystic acne but is also considered one of the most potent teratogens in wide spread use?
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isotretinoin
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The _____ attaches to the uterine wall six or seven days after fertilization.
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blastocyst
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Which drug was given to pregnant woman to prevent morning sickness btw weeks 4 - 10 and caused severe birth defects?
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Thalidomide
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What does TORCH stand for?
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Toxoplasma, Other, Rubella, Cytomegalovirus, Herpes
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After gender and age, ______ is the strongest known predictive risk factor for breast cancer.
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positive family history
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What are the two genes that play a role in hereditary breast and ovarian cancer? What kind of genes are they?
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BRCA 1 & BRCA 2 are tumor suppressor genes normally control cell growth and death
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What is the founder effect?
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accumulation of random genetic changes in an isolated population as a result of its proliferation from only a few parent colonizers
(small group of people interbreeds over generations, specific rare mutations can recur and become more common within a population) |
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Vertical transmission of a trait through either the maternal or paternal side of the family is indicative of which type of inheritance?
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germline mutation
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______ is characterized by melanocytic macules on the lips, perioral, and buccal regions along with multiple gastrointestinal polyps.
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Peutz- Jeghers syndrome
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The American Cancer Society recommends annual ____ screening in addition to mammography for women at hereditary risk for breast cancer.
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MRI
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The risk of colon cancer in a first degree relative of an affected individual can increase an individual's lifetime risk of colon cancer from ____ to ____.
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2 fold to 4.3 fold
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Family members suspected for familial adenomatous polyposis should be screened with _______ rather than _____ because _______.
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colonoscopy, rather than flexible sigmoidoscopy
because polyps are not evenly distributed throughout the colon |
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______ are unusually benign growths that protrude from a mucous membrane in colon and rectum?
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Polyps
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_______ is a phenotypic variant of Familial adenomatous polyposis
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Gardner's syndrome
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______ type of colorectal cancer is more common
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sporadic
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Hereditary nonpolyposis colorectal cancer is also known as _______
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Lynch syndrome
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If a gene mutation is present within a family, relatives should be screened with _______ every ____ years beginning at ____.
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colonoscopy, 1-2 years, age 25
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What is the Philadelphia chromosome?
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Seen in chronic myelogenous leukemia, it is the reciprocal translocation btw the long arms of chromosomes 9 and 22
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The only proven curative therapy for chronic myelogenous leukemia is....
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allogeneic bone marrow transplantation, donor and recipient who are not immunologically identical
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The peripheral blood cell profile in pts w/ CML shoes an increase number of??
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granulocytes and there immature precursors
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Pts with CML usually present with fatigue, night sweats, and low grade fever related to the _____ caused by overproduction of white blood cells.
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tumor burden
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The fusion gene _____ produces a novel protein that differs from the normal gene transcript in that it possesses tyrosine kinase activity?
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bcr/abl
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When tiredness, fever, and enlarged spleen occur during the blastic phase of CML, this situation is called ______ and represents acute leukemia.
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blast crisis
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______ specifically inhibits the tyrosine kinase activity of the bcr/abl oncogene.
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Imatinib mesylate
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Hereditary hemochromatosis is caused by mutations in what gene? how is it inherited?
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HFE gene, autosomal recessive pattern
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How common is HFE-assoc. hereditary hemochromatosis?
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1 in 250 Caucasian persons in the US
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Who is more frequently affected by hereditary hemochromatosis?
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males
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What is the HFE mutation responsible for?
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type 1 HHC resulting in increased iron absorption & characterized by increased iron storage in body tissues such as liver, pancreas, skin, and heart.
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How does hemochromatosis initially present?
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nonspecific symptoms, abdominal pain, fatigue, and arthralgias
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Advanced-stage iron overload can result in:
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hepatomegaly, hepatic cirrhosis, hepatocellular carcinoma, DM, cardiomyopathy, hypogonadism, arthritis, hyperpigmented skin
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Which markers have the greatest sensitivity and specificity for hereditary hemochromatosis?
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serum ferritin and transferrin saturation
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What is the gold standard for assessing the degree of hepatic fibrosis in HHC?
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liver biopsy
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Persons with hemochromatosis are at increased risk for developing ______
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hepatocellular carcinoma
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What is the treatment of choice for iron overload?
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therapeutic phlebotomy
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What most often characterizes autosomal dominant PKD?
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multisystem disorder: bilat. renal cysts, intracranial aneurysms, aortic dissection & rupture, cysts in other visceral organs
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Which two genes are affected in ADPKD?
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PKD 1 and PKD 2
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How does ADPKD present?
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hypertension, flank pain, renal insufficiency in both children and adults
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What is required for the dx of ADPKD?
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renal imaging and genetic testing
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What does treatment target in at in ADPKD?
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preserving renal function by controlling hypertension and avoiding nephrotoxic agents
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What is the major cause of morbidity in polycystic kidney disease?
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renal disease
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What is the most life-threatening complication assoc. with ADPKD?
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aneurysms
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The chance of an affect person having pffspring with ADPKD is ______, which describes an ______ pattern of inheritance?
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50%, autosomal dominant
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Physical exam findings assoc. with ADPKD include ______, ______, _______, ______.
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flank pain, kidney stones, hematuria, proteinuria, infections
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What is unique about development of malignant melanoma?
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no single relationship btw risk factors and development of MM has been ID'd, regardless of FHx
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Dx of familial malignant melanoma requires...
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either two first degree relatives with MM or three relatives of any degree with the disease
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What is the most reliable indicator of risk for development of malignant melanoma, regardless of mutation status?
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accurate family history
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What coexists with familial malignant melanoma and atypical nevi?
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familial atypical multiple mole and melanoma syndrome
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High risk pts for malignant melanoma should be counseled on...
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prevention, surveillance measures, avoidance of sun exposure, skin self-examinations, routine follow up w/ a dermatologist
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The single greatest indicator of risk for malignant melanoma is...
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accurate family history
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Pts exhibiting familial malignant melanoma are often clinically distinguished from those patients with sporadic malignant melanoma because they are at a ______ are at the time of dx?
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younger
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Which factor confers the highest risk among pts who have a personal history of melanoma?
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physical characteristics
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Three important preventive measures for patients at high risk of malignant melanoma are...
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avoidance of sun exposure, skin self exams, routine follow up with dermatologist
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Other cancers assoc. with familial melanoma include...
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retinoblastoma, pancreatic cancer, breast cancer, squamous cell carcinoma, neuroblastoma
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