cystic fibrosis a genetic disorder caused by variation on gene 7 in humans , symptoms of it , how it occurs , how we can overcome to it .

1. NAME :KHAN RAHEELA JABBAR .
STD :S.Y.B.SC
DIV :CZ .
ROLL NO :107 .
TOPIC : GENE ON CHROMOSOME NO 7
IN HUMAN RESPONSIBLE FOR CYSTIC
FIBROSIS .

2. GENE ON
CHROMOSOME 7 IN
HUMAN RESPONSIBLE
FOR CYSTIC FIBROSIS.

4. INTRODUCTION:
 ON CHROMOSOME NO 7 THOUSNANDS OF GENES ARE LOCATED AMONG WHICH
GENE CFTRIS LOCATEDON THE“Q” ARM.
 ON THE “Q” ARM AT Q31.2 POSITION .
 BASE PAIRS 117,478,367 TO 117,668,665 CFTR GENE IS LOCATED.
 CYSTIC FIBROSIS IS ALSO KNOWN AS “CF” IS A COMMON DISEASE THAT IS
INHERITED IN THE YOUNG POPULATION .
 IT IS AN AUTOSOMAL RECESSIVE DISORDER WHICH MEANS THAT A PERSON MUST
RECEIVE TWO ALTERED CF GENES IN ORDER TO GET THIS CONDITION.
 IT IS A LIFE THREATENING DISORDER THAT CAUSES SEVERE DAMAGE TO THE
LUNGS AND DIGESTIVE SYSTEM.
 CFTR GENE PROVIDES FOR MAKING “CFTR” PROTEIN.

5. WHAT IS CFTR PROTEIN ?
 THE CFTR GENE PROVIDES INSTRUCTION
FOR MAKING PROTEIN CALLED CYSTIC
FIBROSIS TRANSMEMBRANE CONDUCTANCE
REGULATOR .
 THIS PROTEIN FUNCTIONS AS A CHANNEL
ACROSS THE MEMBRANE OF CELLS THAT
PRODUCES MUCUS,SWEAT,SALIVA,TEARS &
DIGESTIVES ENZYMES .


6. POSITION OF CFTR GENE ON
CHROMOSOME NO. 7

7. FUNCTIONS OF CFTR PROTEIN:
I. THE CFTR CHANNEL TRANSPORTS NEGATIVELY CHARGED PARTICLES
CALLED CHLORIDE IONS INTO & OUT OF CELL MEMBRANE .
II. THE TRANSPORT OF CHLORIDE IONS HELPS CONTROL THE MOVEMENT OF
WATER IN TISSUES, WHICH IS NECESSARY FOR THE PRODUCTION OF THIN,
FREELY FLOWING MUCUS .
III. MUCUS IS A SLIPPERY SUBSTANCE THAT LUBRICATES & PROTECTS THE
LINING OF THE AIRWAYS, DIGESTIVE SYSTEM, REPRODUCTIVE SYSTEM &
OTHER ORGANS & TISSUES .
IV. THE CFTR PROTEIN ALSO REGULATES THE FUNCTION OF OTHER
CHANNELS, SUCH AS THOSE THAT TRANSPORT OF POSITIVELY CHARGED
PARTICLES CALLED SODIUM IONS ACROSS CELL MEMBRANE .
V. THIS CHANNELS ARE NECESSARY FOR THE NORMAL FUNCTION OF ORGANS
SUCH AS THE LUNGS & PANCREAS .

8. ABNORMAL CONDITION OF CFTR GENE:
* MORE THAN 1,000 OF MUTATIONS IN THE CFTR GENE HAVE BEEN IDENTIFIED IN
PEOPLE WITH CYSTIC FIBROSIS .
* MOST OF THESE MUTATIONS CHANGE SINGLE PROTEIN BUILDING BLOCKS(AMINO
ACIDS) IN THE CFTR PROTEIN OR DELETE A SMALL AMOUNT OF DNA FROM THE
CFTR GENE .
* THE MOST COMMON MUTATION IS CALLED DELTA F508, IS A DELETION OF ONE
AMINO ACID AT POSITION 508 IN CFTR PROTEIN .
* DUE TO DISEASE CAUSING MUTATION IN CFTR GENE, IT ALTERS PRODUCTION
,STUCTURE ,OR STABILITY OF THE CHLORIDE CHANNEL .
* THIS IMPAIRS TRANSPORT OF CHLORIDE IONS & MOVEMENT OF WATER INTO &
OUT OF CELLS ,ALSO FORMATION OF THICK MUCUS IN THE ORGANS WHICH
OBSTRUCT THE AIRWAYS .

10. SYMPTOMS:
RESPIRATORY SYMPTOMS
 COUGH THAT PRODUCES THICK MUCUS & SPUTUM .
 WHEEZING & BREATHLESSNESS .
 REPEATED LUNG INFECTIONS .
DIGESTIVE SYMPTOMS
o GREASY STOOLS.
o POOR WEIGHT GAIN & GROWTH .
o INTESTINAL BLOCKAGE & SEVERE CONSTIPATION .
OTHER SYMPTOMS:
CLUBBED FINGERS ,

12. CAUSES:
 A CHILD RECEIVES ONE CHROMOSOME 7 FROM HIS FATHER & ANOTHER FROM
HIS MOTHER .
 IF BOTH CHROMOSOME RECEIVED HAVE DEFECTED CFTR GENE, THE CHILD WILL
DEVELOPS CF .
 CF DEVELOPS WHEN A PERSON RECEIVES TWO DEFECTIVE CFTR GENES, WHICH
MAKES IT RECESSIVE DISORDER .
 WHEN FATHER & MOTHER BOTH CARRY DEFECTED CFTR, THE CHILD WILL HAVE
1 IN 4 CHANCE OF GETTING INFECTED WITH THIS DISEASE .

14. TEST & DIAGNOSIS:
• SWEAT TEST:A HIGH SALT LEVEL IN THE PATIENT’S SWEAT IS
A SIGN OF DISEASE.
• GENETIC TEST: DNA SAMPLES FROM BLOOD OR SALIVA CAN
BE CHECKED FOR SPECIFIC DEFECTS ON THE GENE .
• DAMAGE TO YOUR LUNGS CAN BE DIAGNOSE BY MRI ,
CTSCAN & X-RAYS .
• LUNG FUNCTION TEST IS USED TO MEASURE SIZE OF LUNGS
.

15. TREATMENTS & DRUGS:
 ANTIBIOTICS TO TREAT & PREVENT LUNG
INFECTION .
 MUCUS DRUG TO HELP YOU COUGH UP THE MUCUS
.
 CHEST PHYSICAL THERAPY .
 GENE THERAPY .
 LUNG TRANSPLANTS ETC .

16. REFERENCE:MOVIE(FOREVERLAND)