Title 11 Genetics LMV 5.1.pdf ✅

1 | P a g e [ G e n e t i c s ] © Copyright www.plab1keys.com (Constantly updated for online subscribers) Copyrights @ Plab1Keys.com Genetics Version 5.1 Corrected, Updated, Lighter PLAB 1 Keys is for PLAB-1 and UKMLA-AKT (Based on the New MLA Content-Map) With the Most Recent Recalls and the UK Guidelines ATTENTION: This file will be updated online on our website frequently! (example: Version 2.7 is more recent than Version 2.6, and so on) The following table contains a summary of the most commonly asked cases (Will come across in the following keys in some details) Plab1keys.com Strict Copyrights! No Sharing or Copying Allowed by any means Compensations and Penalties Worldwide System is Active
2 | P a g e [ G e n e t i c s ] © Copyright www.plab1keys.com (Constantly updated for online subscribers) Copyrights @ Plab1Keys.com Autosomal Recessive Autosomal Dominant X-Linked Recessive ◙ If Both Parents are Carriers: • 25% chance of a child to be affected. • 50% chance of a child to be a Carrier. ◙ If one parent is affected and the other parent is carrier → 50% chance of a child to be Affected. And 50% chance of a child to be a Carrier. ◙ If One parent is Affected → 50% chance of a child to be affected. → 25% chance of a Grandchild to be affected. Note: there is no carrier state of autosomal dominant conditions. If a parent does NOT have the gene → 0% he will pass to his/her child. ◙ If Mother is Carrier → 50% chance of a Male child to be affected. ◙ If Father is affected → 0% chance of a Male child to be affected. → 100% chance of a Female child to be carrier. Cystic Fibrosis Huntington’s Disease Duchenne Muscular Dystrophy (DMD) Congenital Adrenal Hyperplasia (21-hydroxylase Deficiency). Neurofibromatosis Haemophilia Thalassemia Autosomal Dominant Polycystic Kidney Disease (ADPKD) G6PD deficiency
3 | P a g e [ G e n e t i c s ] © Copyright www.plab1keys.com (Constantly updated for online subscribers) Copyrights @ Plab1Keys.com Sickle Cell Anemia BRCA gene (breast cancer) Haemochromatosis VWD Hereditary spherocytosis Key 1 Cystic Fibrosis ◙ Understanding the Disease: Cystic Fibrosis (CF) is caused by Autosomal Recessive Mutation in CFTR gene “Cystic Fibrosis Transmembrane Conductance Regulator gene”. This mutation leads to → Increased Viscosity and Thickness of the body’s secretions + High Chloride (Cl- ) in the skin. Think of the symptoms: • Salty skin. • Thick Secretions and mucous accumulates in the lung “Alveoli” making it a good environment for bacterial infection. Thus → Recurrent repetitive cough, with sputum, and chest infections. • Thick secretions, on the long-term, block the pancreatic duct → No pancreatic enzymes are released → ↓ fat and protein Absorption → Failure to
4 | P a g e [ G e n e t i c s ] © Copyright www.plab1keys.com (Constantly updated for online subscribers) Copyrights @ Plab1Keys.com thrive (short and thin child) (+) Fat-containing stool, which is called “Steatorrhea” which presents with bulky, greasy and offensive smell stools. Also, in the long-term, the pancreas will be damaged → DM-type 1. • In Males with CF usually → Congenital Absence of Vas deference → Infertility. • Early after birth, the meconium “the first stool that is passed by a newborn” might not pass due to thickness → Meconium ileus. In short, the common features of Cystic Fibrosis (CF). • Salty-tasting skin, which parents notice when they kiss their child • Frequent coughing, wheezing, or bouts of pneumonia or sinusitis “recurrent chest infections”. • Difficulty breathing that keeps getting worse • Big appetite but poor weight gain (Failure to Thrive). • (Steatorrhea) → Bulky, smelly, greasy bowel movements. • Finger Clubbing. • In the long-run [Complications] → Diabetes, Cirrhosis, Respiratory failure, Bronchiectasis “widened, dilated airways → more susceptible for sputum and mucous collection and infection.