Explain concept of gene penetrance and expression of ADPKD

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Reference no: EM133279810

Assignment - Autosomal Recessive and Dominant Disorders Genetics Discussion

Topic - Genetics

There are several types of Mendelian inheritance which are also known as single-gene patterns of inheritance. Polygenic inheritance involves multiple genes. Multifactorial inheritance can be caused by environmental factors and also involves multiple genes.

Explain the following single-gene disorders and provide examples of each of the disorders.

-Autosomal Recessive Disorders

-Autosomal Dominant Disorders

Topic - Case Study

You are caring for a 31-year-old female patient who is two months pregnant. Her pregnancy was not planned. She tells you her mother died six months ago at the age of 56 from end-stage renal disease (ESRD) as a result of having adult polycystic disease (APKD). The patient did not have any genetic testing done prior to becoming pregnant even though she knows this disease is hereditary. She explains to you her 35-year-old sister was diagnosed with autosomal dominant polycystic disease (ADPKD) two years ago and has recently started on hemodialysis. Her sister is now on the kidney transplant list. Your patient has questions regarding her genetic testing results.

Please answer the following questions based on the Case Study above.

1. If the patient's genetic testing reveals she has the inherited gene for ADPKD what is the chance of her transmitting this disorder to her children? Explain the pathophysiology and inheritance pattern.

2. If the patient's genetic testing reveals she has not inherited the gene for ADPKD can her children inherit the gene from her mother (the children's grandmother)?

3. Explain the concept of gene penetrance and expression of ADPKD. Include the pathophysiology of reduced penetrance and variable expressivity.

Reference no: EM133279810

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