Autosomal dominant MCQ 20+

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• Autosomal domniamt disorders are
  ক

  Polycystic kidney disease

  খ

  Marfan’s syndrome

  গ

  Duchenne muscular dystrophy

  ঘ

  Diabetes insipidus

  ঙ

  Albinism
• The following are autosomal dominant disorders
  ক

  Neurofibromatosis

  খ

  Polycystic kidney disease

  গ

  Achondroplasia

  ঘ

  Diabetes insipidus

  ঙ

  Congenital adrenal hyperplasia
• An autosomal dominant trait usually has the following features
  ক

  At least one of the parents show the trait

  খ

  Both sexes are equally affected

  গ

  Trait shows complete penetrance

  ঘ

  More often the gene codes an enzyme

  ঙ

  Carriers have normal phenotype
• Characteristics of autosomal dominat inheritants are
  ক

  One mutated copy of the gene will be necessary for a person to be affected

  খ

  Each affected person usually has one affected parent

  গ

  Have reduced penetrance

  ঘ

  Two copies of the gene must be mutated for a person to be affected

  ঙ

  25% child will inherit the maternal gene
• Mode of inheritance is autosomal dominant in the following conditions
  ক

  Neurofibromatosis

  খ

  Tuberous sclerosis

  গ

  Thalassaemia

  ঘ

  Phenylketonuria

  ঙ

  Hemophilia
• Autosomal dominant diseases are:
  ক

  Myotonic dystrophy

  খ

  Tuberous sclerosis

  গ

  Wilson’s disease

  ঘ

  Duchene muscular dystrophy

  ঙ

  Becker muscular dystrophy
• An autosomal dominant trait has the following features
  ক

  Normal child is possible even if both of the parents are affected

  খ

  That trait is seen in every generation

  গ

  New mutation is suspected if the parents are genetically normal

  ঘ

  Male are more affected than female

  ঙ

  Most of the diseases are due to enzyme defect
• Features of autosomal dominant disorders
  ক

  Follow Mendelian trait

  খ

  The trait mainly involves receptor and structural proteins

  গ

  May transmit into every generation

  ঘ

  Are expressed only in homozygous states

  ঙ

  In which males are more affected than females
• Autosomal dominant disorders of surgical importance are
  ক

  Familial adenomatous polyposis

  খ

  Hereditary spherocytosis

  গ

  Multiple endocrine neoplasia

  ঘ

  Hemophilia

  ঙ

  Mucoviscidosis
• Autosomal dominant mode of transmission occurs in
  ক

  Hereditary spherocytosis

  খ

  Marfan’s syndrome

  গ

  Huntington’s disease

  ঘ

  Phenylketonuria

  ঙ

  Cystic fibrosis
• Autosomal dominant disorders are
  ক

  Huntington's disease

  খ

  Marfan syndrome

  গ

  Polydactyly

  ঘ

  Cystic fibrosis

  ঙ

  Sickle cell anemia
• Autosomal dominant inheritance is characterized by
  ক

  Variable expression of disorders

  খ

  Equal male-female involvement

  গ

  Early onset

  ঘ

  Complete penetrance

  ঙ

  Transmission only by females
• Features of autosomal dominant disorders are
  ক

  Manifested in heterozygous state

  খ

  Both males and females are affected

  গ

  New mutations occur in germ cells of elderly father

  ঘ

  Complete penetrance is common

  ঙ

  Onset is in early life
• Following are the autosomal dominant disorders
  ক

  Neurofibromatosis

  খ

  Marfan’s syndrome

  গ

  Wilson disease

  ঘ

  Duchene muscular dystrophy

  ঙ

  Hemophilia
• Examples of autosomal dominant disorders are
  ক

  Neurofibromatosis

  খ

  Familial polyposis coli

  গ

  Marfan syndrome

  ঘ

  Fragile X syndrome

  ঙ

  Ducchene muscular dystrophy
• Autosomal dominant diseases are
  ক

  Achondroplasia

  খ

  Neurofibromatosis

  গ

  Cystic fibrosis

  ঘ

  Phenylketonuria

  ঙ

  Tay-sacs disease
• Regarding autosomal dominant inheritance
  ক

  Risk remain same for each successive pregnancy

  খ

  Heterozygotes are phenotypically affected

  গ

  High new mutation rate

  ঘ

  25% of children are affected

  ঙ

  Both sex are not equally affected
• Characteristics of autosomal dominant disorders
  ক

  Transmitted in a vertical pattern

  খ

  New mutation may occur

  গ

  Skipped generation is not observed

  ঘ

  Consanguity between parents present

  ঙ

  50% chance of carrier in offspring