Introduction Allows for specific patterns of inheritance controlled by a single gene pair (“monogenic”) 4 different types of patterns autosomal dominant autosomal recessive x-linked dominant x-linked recessive additional inheritance effects include imprinting anticipation In general defective structural proteins = AD defective enzymes = AR Pedigree Analysis A pedigree chart displays a family tree and the members of the family affected by a genetic trait Use a pedigree chart can be used to determine the mode of transmission dominance whether the trait is dominant or recessive linkage whether the trait is X-linked or autosomal Key shapes circles represent females squares represent males color a black circle/square represents an individual affected by the genetic trait a white circle/square represents an individual that is not affected by the trait lines horizontal a male and female connected by a horizontal line have mated and have children vertical vertical lines connect parents to their children Autosomal Dominant Description only need to get the abnormal gene from one parent in order for you to inherit the disease. Examples Syndactyly Polydactyly Marfan's syndrome Cleidocranial Dysostosis Hereditary Multiple Exostosis Achondroplasia MED Metaphyseal chondrodysplasia (Schmid and Jansen types) Kniest dysplasia Malignant hyperthermia Ehlers-Danlos syndrome Osteogenesis imperfecta (types I and IV) Osteochondromatosis/Multiple Hereditary Exostosis Osteopetrosis (tarda, mild form) Autosomal Recessive Description an autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. Examples Diastrophic Dysplasia Friedreich's Ataxia Gaucher disease Spinal muscular atrophy Sickle cell anemia Osteogenesis imperfecta (II and III) Hypophosphatasia Osteopetrosis (infantile, malignant form) Sex-linked Recessive (males only) Description X-linked diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease. Examples Duchenne muscular dystrophy Becker's muscular dystrophy Hunter's syndrome Hemophilia SED tarda Sex-linked Dominant Examples Hypophosphatemic rickets Leri-Weill dyschondrosteosis (bilateral Madelung's deformity) Multiple inheritance patterns Examples Charcot-Marie-Tooth (AD, AR, Xlink) Osteopetrosis (AD, AR) Osteogenesis Imperfecta (AR, AD) Neurofibromatosis (AD, AR) SED (AD, Xlink) Miscellaneous Genetic Inheritance Imprinting a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner Examples Angelman Syndrome Prader-Willi Syndrome Anticipation a phenotype occurs earlier (and typically worse) in each subsequent generation common in trinucleotide repeat disorders
QUESTIONS 1 of 9 1 2 3 4 5 6 7 8 9 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (OBQ11.159) Which of the following genetic defects does not follow Mendelian patterns of inheritance? Tested Concept QID: 3582 Type & Select Correct Answer 1 Defect in the fibroblast growth factor (FGF) receptor 3 7% (274/3928) 2 Mutation of a gene coding for a sulfate transport protein 21% (813/3928) 3 Defect in the Gs-alpha protein 45% (1760/3928) 4 Defect in the fibrillin gene 8% (324/3928) 5 Deficient activity of the enzyme ß-glucosidase (glucocerebrosidase) 18% (715/3928) L 4 Question Complexity B Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3 Review tested concept (OBQ11.272) A 46-year-old female begins to have personality changes, cognitive decline, and chorea. Her father began having similar but less severe symptoms at age 55 before passing away 6 years later. One of her 2 older siblings has also begun to show deterioration. Which of the following describes the hereditary pattern of this disease? Tested Concept QID: 3695 Type & Select Correct Answer 1 Autosomal dominant with variable penetrance 22% (642/2971) 2 Autosomal recessive with variable penetrance 3% (97/2971) 3 X-linked recessive 3% (90/2971) 4 Autosomal dominant with anticipation 70% (2069/2971) 5 Autosomal dominant with imprinting 2% (57/2971) L 2 Question Complexity B Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review tested concept Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (OBQ07.219) Which of the following conditions exhibit the inheritance pattern shown in Figure A, assuming no new mutations? Tested Concept QID: 880 FIGURES: A Type & Select Correct Answer 1 Duchenne muscular dystrophy 15% (245/1645) 2 Hunter's syndrome 17% (282/1645) 3 Hemophilia 16% (267/1645) 4 Spondyloepiphyseal dysplasia (SED) tarda 15% (240/1645) 5 Diastrophic dysplasia 37% (605/1645) L 5 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 5 Review tested concept (OBQ06.228) Prader-Willi syndrome and Angelman syndrome are examples of a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. What is the name of this genetic phenomenon? Tested Concept QID: 239 Type & Select Correct Answer 1 Sex-linked dominant transmission 16% (86/531) 2 Y-linked dominant transmission 2% (10/531) 3 X-linked dominant transmission 8% (44/531) 4 Genomic imprinting 68% (361/531) 5 Mendelian inheritance 5% (28/531) L 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review tested concept (OBQ05.228) Which of the following is a phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation? Tested Concept QID: 1114 Type & Select Correct Answer 1 Genetic drift 2% (16/640) 2 Expansion 2% (10/640) 3 Mendelian inheritance 4% (24/640) 4 Anticipation 90% (577/640) 5 Phenotypic plasticity 1% (8/640) L 1 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review tested concept
All Videos (1) Podcasts (1) Login to View Community Videos Login to View Community Videos Chorea from genetic disorder David Abbasi Basic Science - Inheritance Patterns of Orthopaedic Syndromes D 2/1/2012 270 views (3) Basic Science⎜Inheritance Patterns of Orthopaedic Syndromes Team Orthobullets 4 Basic Science - Inheritance Patterns of Orthopaedic Syndromes Listen Now 9:12 min 10/21/2019 49 plays (1)