Notes in 02. Mendelian Disorders

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Published	11/19/2024	A situation where a single gene mutation leads to multiple effects on an individual's phenotype.
Published	11/19/2024	Identify the inheritance pattern: A disorder where males are primarily affected, and mothers are usually carriers.
Published	11/19/2024	Identify the inheritance pattern: Both sexes are equally affected, and there is a 50% chance of inheritance if one parent is affected.
Published	11/19/2024	Identify the disorder: An autosomal dominant condition characterized by skeletal abnormalities, such as long limbs and heart problems.
Published	11/19/2024	Which protein is commonly affected in disorders involving key structural proteins?a) Hemoglobinb) Collagenc) Myosind) Elastin
Published	11/19/2024	Which disorder is categorized as an autosomal recessive disease?a) Familial hypercholesterolemiab) Ehlers-Danlos syndrome (some variants)c) Cystic fib…
Published	11/19/2024	Which statement is true regarding X-linked recessive inheritance?a) Affected males cannot pass the disorder to their sonsb) Affected males transmit th…
Published	11/19/2024	Which of the following features is commonly seen in autosomal dominant disorders but not in autosomal recessive ones?a) Delayed age of onsetb) Complet…
Published	11/19/2024	Which of the following disorders is inherited in an X-linked recessive pattern?a) Duchenne muscular dystrophyb) Huntington diseasec) Polycystic kidney…
Published	11/19/2024	Which condition is an example of an autosomal dominant disorder?a) Sickle cell anemiab) Marfan syndromec) Hemophilia Ad) Cystic fibrosis
Published	11/19/2024	What is the chance that a child will inherit an autosomal dominant disorder if one parent is affected?a) 100%b) 75%c) 50%d) 25%
Published	11/19/2024	Which of the following is a key feature of autosomal dominant disorders?a) Only males are affectedb) Both sexes are equally affectedc) Skips generatio…
Published	11/19/2024	A 10-year-old boy presents with short stature and bone deformities. His mother has similar skeletal abnormalities but to a lesser extent. Genetic test…
Published	11/19/2024	A 40-year-old man with Vitamin D-resistant rickets is concerned about the risk of passing the disorder to his children. He is married to a woman who d…
Published	11/19/2024	Example of X-linked Recessive Disorders in Blood System
Published	11/19/2024	Example of X-linked Recessive Disorders in Immune System
Published	11/19/2024	The following are autosomal recessive disorders except,Sickle cell anemiaThalassemiaWillebrand diseaseA and B
Published	11/19/2024	All are autosomal dominant disorders exceptPseudo-hypoparathyroidismDystrophia myotonicaOsteogenesis imperfectaCongenital adrenal hyperplasia
Published	11/19/2024	What is the consequence of a splice-site mutation in the phenylalanine hydroxylase enzyme?
Published	11/19/2024	Which enzyme defect is associated with Tay-Sachs disease and what type of mutation occurs?
Published	11/19/2024	What enzyme deficiency causes severe combined immunodeficiency (SCID) and what type of mutation is involved?
Published	11/19/2024	Which enzyme inhibitor is defective in emphysema and liver disease, and what is the nature of the mutation?
Published	11/19/2024	What is the metabolic consequence of an enzyme defect in the case of albinism?
Published	11/19/2024	What defect in the low-density lipoprotein (LDL) receptor leads to familial hypercholesterolemia?
Published	11/19/2024	What type of mutation in the vitamin D receptor causes Vitamin D-resistant rickets?
Published	11/19/2024	What are the consequences of deletions or defective mRNA processing in the hemoglobin gene?
Published	11/19/2024	Which condition is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) ion channel, and what is the result of these …
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