GENERAL HISTOLOGY

EXCRETORY SYSTEM

KIDNEY

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
On which chromosome would genetic analysis most likely find an abnormality in adult polycystic kidney disease?
A
Chromosome 18
B
Chromosome 6
C
Chromosome 9
D
Chromosome 16
Explanation: 

Detailed explanation-1: -Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in 1000 live births. Approximately 78 percent of families with ADPKD have an abnormality on chromosome 16 (PKD1 locus).

Detailed explanation-2: -The genetics of ADPKD In the great majority of individuals with PKD, the condition is inherited in an autosomal dominant manner, known as autosomal dominant polycystic kidney disease (ARPKD). This is due to mutations in the PKD1 gene on chromosome 16, causing type 1 disease. This accounts for more than 85% of cases.

Detailed explanation-3: -DNA testing is available for PKD. There are two types of DNA tests: Gene linkage testing and direct mutation analysis/DNA sequencing. Gene linkage can determine if you have PKD with a 99 percent probability in those with family history.

Detailed explanation-4: -Polycystin-1 and polycystin-2 likely work together to help regulate cell growth and division (proliferation), cell movement (migration), and interactions with other cells. Polycystin-1 is also found in cell structures called primary cilia.

Detailed explanation-5: -Autosomal dominant polycystic kidney disease (ADPKD). If one parent has ADPKD, each child has a 50% chance of getting the disease. This form accounts for most of the cases of polycystic kidney disease.

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