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  • Home
  • Personal Development
    • Standing up with purpose
    • Quran - My Source of Solace
    • Tafseer Surah Al Fatihah
    • Temporary magnetic attraction
    • The Art of Dua
    • Remaining Faithful
    • Motivational Quotes by Hafsa
    • Do I trust my senses?
    • Controlling Anger
    • Maryam - a source of inspiration
    • Doses of Inspiration >
      • The importance of Amanah
      • Preparation for the Inevitable Hereafter
      • Are muslim women oppressed?
      • Giving charity and the fitnah of wealth
      • Reflection on Racism
      • My thoughts on evolution
    • Tawakkul
    • Repeated Disappointments
    • The meaning of happiness
    • Depression in society
    • Motivation to Study
  • Medicine and Health
    • The link between Medicine and Science with Glorious Quran >
      • Introduction
      • Embryology and the human development
      • The Power of Human Senses
      • The Brain - The Human Body's Main Processor
      • The wonders of the heart anatomy and physiology
      • The Conceptual Art of The Bone
      • The extraordinary tubular network of the small intestine and the conclusion of the research project
    • COVID-19 Pandemic >
      • Maintaining Healthy Lifestyle
    • Oncology >
      • Introduction to DNA
      • What is cancer and its types?
      • Diagnosis and Treatment of cancer
      • Chemotherapy: A Introduction
      • Breast Cancer
      • Prostate Cancer
      • Bladder Cancer
      • Malignant Melanoma and Obesity
      • Neurological Tumours
      • The link between viruses and cancer
    • Respiratory >
      • Introduction to lungs
      • Asthma
      • Cystic Fibrosis
    • Rheumatology and Orthopaedics >
      • Duchenne Muscular Dystrophy
      • Lower Back Pain
      • Neck Pain
      • Arthiritis
    • Cardiology >
      • Heart Physiology
      • Coronary Heart Disease
    • Endocrinology >
      • Diabetes Inspidus
    • Ophthalmology >
      • The Eye Issue 13
    • Gastroenterology >
      • The food journey
    • Immunology >
      • Adaptive Immune Response
      • Innate Immune Response
    • Haematology >
      • Thrombocytopenia and its diagnosis
      • Haemolytic anaemia and its diagnosis
    • Gynaecology >
      • Comfort during pregnancy
    • Hajj and Eclipse >
      • Hajj and Health
      • Solar Eclipse
    • Microbial disease >
      • What are viruses?
      • Why viruses are replicated?
      • Herpes Virus
      • Vaccines
      • Penicllium and Pseudomona bacteria
    • Nutrition and Exercise >
      • Munch Before You Crunch
      • Drinking Water
      • Benefits of Avocado
      • Benefits of Honey
      • Benefits of Blackseed oil
      • Healthy Wealthy tips for Ramadan
      • Prophetic Medicine
      • Swimming: A sunnah issue 15
      • Yoga
    • Healing through Islam >
      • Healing through Ruqya
      • Spiritual Detox, Supplications and Recommended Reading
      • Ruqyah
    • Medicine Through Islamic History
    • A Good Health Makes You Rich
  • Relationships
    • Chemical Bonding >
      • An introduction
      • Topic 1 - Relationship with Allah
      • Topic 2 - Relationship with our fathers
      • Topic 3 - Relationship with our mothers
      • Topic 4 - Relationship with the spouses
      • Topic 5 - Relationship with Siblings
      • Topic 6: Relationship with Grandparents
    • Everlasting love with Allah
    • Allah my sole companion
    • Loving people for the sake of Allah
    • My father who inspired me to do dawah,
    • Old is Gold
    • Connecting with sisters
    • Poem on sisterly love
    • Teaching Children to Pray
    • My relationship with the Quran
    • A Muslimah's Identity
    • Khadija radia allahu anha
    • The Eminent Companions of Prophet salla allahu allayhi wa salam >
      • Lessons of the Father of Kittens Abu Hurayrah (RA)
      • Julaybib (RA)
      • The pure faith of Ramla bint Abi Sufyan (RA)
      • A man of honour and dignity - Zubair Ibn Al Awam (RA)
      • Zaid ibn Harith - the beloved one (RA)
      • The Custodian of the Ummah - Abu Ubaydah ibn Jarrah
      • The man of paradise Bilal (RA)
      • Dhun Noorayn Uthman ibn Affan (RA)
      • Wisdom of Rumaysah bint Milhan (R
    • The Man with the Lion's heart
    • Tied Bonds
    • Jewels of the Household
  • Magnetic Love With Ramadan
    • Where is the Ummah?
    • Self-analysis and preparation of Ramadan
    • Poem on Ramadan
    • Mannerism Whilst Fasting
    • Reconnecting with Ramadan 2015
    • Season 1
    • Season 2
    • Season 3
    • Season 4 >
      • Part 1 Reminiscing how the Sahaba spent Ramadan
      • Part 2 Polishing Our Character
      • Part 3: Steadfastness after Ramadan
    • Season 5 >
      • The faith of Ibrahim
      • Pearls of Ramadan
      • Inspiring individuals from world history
      • The perserverance of Asiyah
    • Season 6 >
      • Pre-Ramadan Reminders
      • Daily Ramadan boost
      • Ramadan events
    • Season 7 >
      • Cementing our Purpose during COVID-19
      • Health and Well-being
  • Spoken Word Poetry
    • Themes >
      • Developing Yourself
      • Relationship with Allah
      • Character
      • Preparation for the Akhirah
      • Parents
      • Friendship
      • Humanity and Society
      • Reflections
      • Nature and Weather
      • Marriage and my amazing husband
  • Art
    • Islamic Calligraphy
    • Customised names - Arabic Calligraphy
    • Special Occasions
    • Nature
    • Crafts: Home decor ideas
    • Crafts: Jewellery design
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    • The Revival of Our Sacred Landmarks
    • History Podcasts
    • The magnitude of Islamic History
    • An insight to the Islamic Art of the Abbasid dynasty
    • The history of April Fools Day
    • The history of Valentines
  • Guest writers
    • Katie Quirk
    • Zahra Makeen
    • Jamila Jones
    • Tasnim Arbee
    • Asqarini Hasbi
    • Umm Ruqaiya
    • Suleiman Athman >
      • The Quest of Salvation Part 1 of 3 sequel
      • The Quest of Salvation Part II of 3
      • The Quest of Salvation Part 3 of 3
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Welcome

Cystic Fibrosis and procedure to diagnose a baby with it.

4/22/2015

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CF is caused by the abnormal functioning of the protein CF transmembrane conductance regulator (CFTR). CFTR is only expressed in a number of cells but all cells carry the gene for the protein. CFTR is mainly found in epithelial cells and in order for CFTR to be expressed a certain amount must be produced at the right time. The CFTR protein contains 1480 amino acids and is important in regulating the flow of chloride and sodium across the epithelial surface.  The function of CFTR is disrupted by changes in the base sequence, these changes are called mutations. Over 1,200 mutations have been discovered for CF but the most common is deltaF508-which is a 3 base pair deletion (of amino acid phenylalanine) and account for 76% of affected chromosomes in the UK. CF is an autosomal recessive disease, so both CFTR genes are required for the individual to be diagnosed with CF, if only one is present then the individual will be a carrier.

A classification system has been produced that characterises CFTR mutation depending on the effects the mutation has on the CFTR production.

Class 1 are nonsense mutations as there is a premature stop codon which leads to the production of unstable mRNA or the release of incomplete proteins that are not functional. This protein is degraded before it can reach the membrane. The phenotype of patients carrying the stop mutation is severe.

In Class 2 after CFTR has been translated into a peptide in the ribosome, it will go through a series of processes in the ER and Golgi apparatus. These processes are glycolisation and folding by chaperons that enable the trafficking of CFTR to the apical cell membrane. In Class 2 mutations, the CFTR protein is unable to fold correctly due to the deltaF508. The protein is retained in the ER and eventually targeted for degradation.

Class 3- phosphorylation of CFTR protein by protein kinase (PK) & dephosphorylation by protein phosphatase (PP) is important in regulating CFTR chloride channel activity. Phosphorylation of the regulatory domain causes ATP to bind to the nucleotide binding domain (NBD) resulting in induction of chloride transport. In Class 3 CFTR is produced, processed and transported and inserted into the apical membrane however phosphorylation or binding of ATP does not occur.

Class 4- in this class of mutation the CFTR protein is produced, processed, transported to the apical membrane. Phosphorylation and dephosphorylation also occur. In class 4, phosphorylation actually reduces chloride transport.

Class 5- this class of mutations generates both abnormal and correctly spliced transcripts. These patients have a mild phenotype but with variable disease expression depending on the level of correctly spliced transcripts. 

Steps of diagnosing a baby with CF

Neonatal screening test

To diagnose a baby with CF the first test that is to be performed is the neonatal screening test. During the 1st 2 weeks of Childs life, high levels of IRT levels will be shown if CF is present. In this test a blood sample is taken from the child heel and the level of this pro-enzyme is monitored. If levels are high, then other genetic test can be carried out to find out exactly which mutations are present and detect the severity of the disease.  This test is not reliable after 2 weeks of birth as several other factors may play a part in the high levels of IRT.

PCR Analysis

One of the 1st genetic tests that can be carried out for the diagnosis of CF is PCR analysis. This test is carried out to see if the most common mutation (deltaF508) is present which is the deletion of 3bp. PCR primers have been developed that can distinguish a normal gene from a mutant gene. With these primers a 154 bp product is produced from a normal individual and a 151 bp product is amplified from DNA of an individual with the disease. If this CF mutation is present it will show a distinct pattern from a normal pattern. If both genes have this mutation, two bands will be seen. If 1 band is present, this indicates that other the second gene has a different mutation which can be followed up by other genetic tests.

         Normal     Carrier        CF

       Individual  Individual  Individual

       ----------------------------------
154 bp    ___2x       ___
151 bp                              ___         ___2x
       ----------------------------------

ARMS

Another test that can be performed is the amplification refractory mutation system (ARMS). This can be used to recognize the 20 most common CF mutations. In this technique, three multiplex PCR reactions are performed in parallel for each individual. Each tube contains number of separate primers capable of detecting different mutations. In each tube, sets of primer pairs are designed to anneal a particular allele to produce distinct band. A band is only produced in presence of mutant allele and the absence of the band indicates that the allele is absent; therefore positive signals are easily differentiated in order to identify the exact mutations present. Since it is possible for one of the tubes to produce no bands, there are always positive controls to show that the PCR reaction is functioning properly in each tube. The ARMS assay is accurate, rapid and easy to perform, but it does not distinguish between homozygotes and heterozygotes except for the DF508 mutation.

Multiplex Allele Specific PCR 

Allele specific oligonucleotide (ASO) dot-blot is a widely used technique to diagnose CF. Genomic DNA from the patient is amplified by PCR and transferred onto nylon membranes as a dot-blot. Membranes are hybridized with either a radiolabelled wild type allele specific oligonucleotide (ASO) or mutated ASO. Following autoradiographic exposure, the combination of oligonucleotide hybridization is observed. Using this combination an ASO dot-blot can clearly distinguish homozygous, heterozygous and wild type subjects.
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