Question
A 25-year-old man presents for a routine physical examination. The patient is tall and on examination, he was found to have an early diastolic murmur. His family pedigree is given below. Which of the following is the mode of inheritance by which the disease is likely to be transmitted?
| A. |
AD
|
| B. |
AR
|
| C. |
XLR
|
| D. |
XLD
|
Show Answer
|
Correct Answer � A
Explanation
|
|
Ans: A. AD
Autosomal Dominant (AD) Inheritance Diseases
– Mutated genes can express themselves in a heterozygous state.
– Usually, it causes a defect in the synthesis of structural or non-enzyme proteins.
– These have a variable onset.
– These are characterized by reduced penetrance (individuals inherit the gene but can be phenotypically normal) and variable expressibility (the trait is seen in the individuals carrying the mutant gene but is expressed differently among individuals, e.g. patients of neurofibromatosis have variant from brownish skin spots to multiple skin tumours in different patients).
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