Metacentric

Submetacentric 

Acrocentric 

1)  T/F...WHen naming chromosomes Q is always the long arm?

2)  T/F...you can use a RBC to garner a karyotype?

3) Phytohemagglutinin..what is it's role in karyotyping?

4)  Colcemid ...it's role in karyotyping?
 

1)  True

2)  False, you must use a cell that has a nucleus.

3)  …stimulates cells to divide (mitosis)

4)   is added to arrest cell in metaphase of mitosis.

1)  What is FISH role in karyotyping?

2) What is chromosome painting?

1)  FISH allows us to look for the presence or absence of a specific DNA sequence, or to evaluate the number or organization of chromosomal regions with much greater resolution than G-banding

2)  Using a plethora of DNA probes specific for DNA sequences of ONLY 1 specific chromosome.  Do this uniquely for each chromosome and you have a Vibrant Karyotype...

1)  What is CGH?

2)  Why do we always use 1 male...1 female for hybridization?

3)  T/F...Abnormalities of chromosome structure occurs with the greatest frequency?

 

1)  CGH can assess  the relative copy number of genomic DNA sequences in a genome-wide manner, but not whether they have been translocated or rearranged from their normal position in the genome.
2)  Serves as 'internal controls'

3)  False, Abnormalities of chromosome number occurs more frequently

1)   any chromosome number other than the normal 46
2)  an exact multiple of the haploid chromosome number (n; 23).

3)  is three or more multiples of the haploid chromosome number

4)  (3n; 69) is three times the haploid number

5)  an abnormal chromosome number due to an extra or missing chromosome; not an exact multiple of the haploid set(MOST COMMON OF ALL CHROMOSOMAL ABNORMALITIES)

1)  Heteroploid

2)  Euploid:

3)  is three or more multiples of the haploid chromosome number

4)  Triploid 

5)  Aneuploidy (monosomy or trisomy)

1)  What is the most common mechanism for aneuploidy ?

2)  T/F...Autosomal monosomy is a lethal condition

3)  T/F..most trisomys are lethal condition?

4) what are compatible trisomys?

1)   chromosomal nondisjunction during maternal meiosis I

2) True

3)  True

4)  13,18,21

Trisomy 13 (Pataue SYNDROME)

Approximately 1 in 22,700 live births.

Lethal condition...most of these Kid's will die

Trisomy 18 (Edward's Syndrome)

1 in 7,500 live births

Usually die in 1st month...

Low recurrence risk (1%...same as Patau)

Trisomy 21

 Most due to NONDISJUNCTION...however, in about __ of cases trisomy 21 is due to Robertsonian translocation between chromosome 21 and another chromosome, usually 14.
Approximately 2% of affected individuals are mosaic for a trisomy 21 cell line.

 5%

Robertsonian Translocations:

 1)  T/F...carriers are Normal..phenotypically?

 2)  Carriers have a 16% chance of having a child with Trisomy 21?

 3)  have a 16% chance of having a child who is also a Robersonian Translocation Carrier

4)T/F..  Cannot have have normal genotyped children?

 1) True

2) True

3)  True

4)  False 16% chance...(1 in 3 Live births...other 3 will be aborted)

T/F...CGH cannot tell us whether or not a specific gene sequence has been translocated to another chromosome or rearraged on the native chromosome?

 -What is the name of any chromosome number that is an exact multiple of the haploid number?

-What is the name of 3 or more haploid multiples?

-What is the name of an abnormal chromosome number due to an extra or missing chromosome; not an exact multiple of the haploid set

True...This is why Karyotyping or FISH is also necessayr.

Euploid

Polyploidy (triploidy and tetraploidy are examples)

Aneuploidy

Trisomy 21

Advanced maternal age is the best documented risk factor other than having a previously affected child.
 

1% chance of recurrence

1)  Mosaicism is commonly caused by nondisjunction in an early postzygotic _____ division.  

2)  It can cause a Down syndrome

3)  For trisomy 21, __ of nondisjunctions occur in the mother.

4) T/F...Most balanced rearrangements do not result in a phenotypic effect?

1)Mitotic

2)  True

3)  94%

4)  True

1)  Structural rearrangements are classified as:
______(additional or missing chromosomal material) and
_______(normal complement of material)

2)Ring Chromosomes
Isochromosomes
Dicentric Chromosomes
 

These are all examples of what?

1)  Unbalanced

Balanced

2)  Unbalanced

These are all examples of what?

Inversions
Reciprocal translocations
Robertsonian translocations
Insertions

1)  Isochromosomes have no short arm...and 1 long arm?

2)  Paracentric Inversions do not involve the centromere

3)  Which result in inviable chromosomes due to multiple centromeres

1)  False they have no short arms and the same 2 long arms

2)  True (Pericentric inversions do)

3)  Paracentric...

1)   the inability of one copy of a gene to perform the function of two normal copies of the gene.

2)   a syndrome with a phenotype that is caused by deletion of multiple, neighboring genes.
 

1) Haploinsufficiency

2)  Contiguous gene syndrome 

1)  With ...Prader-Willi/Angelman syndromes it matters who you Inherit the Deletion from?

 2)  what is this called: differences in gene expression between the allele inherited from the mother and the allele inherited from the father.

3)  Genomic imprinting is most often caused by ?

4)  What does this methylation do?

5)  What is the segment that is deleted

1)  True (why i have no clue...something about imprinting) (dad=prader-willi...mom=angelman)

2)  Genomic imprinting 

3)  methylation of cytosine 

4)  Silences the expression of that gene segment

5)  15q11-q13 on the father's Chrom 15

1)  A condition in which both copies of a chromosome are inherited from a single parent

2)  This represents___% of patients with  Pradi-Willi Syndrome. In this case what 2 will they have?

 3)  It represents __% of Girls with Angelman- Syndrome.  In this case what 2 will they have?

1)  Uniparental disomy

2)  30% 2 of Mommas 15

3)  5%  2 of Daddy's 15

Inhalation of aerosol particles

Aspiration of infected secretions from upper respiratory tract

Aspiration of regurgitated gastric contents

Hematogenous spread

Common cold..some common characterisitcs:

Rhinoviruses affect what age group

Parainfluenza virus affects who?

RSV (Respiratory synctial virus)

Coronaviruses and adenovirus

5-40 yo

Occur in Children under 3

Occur in winter and spring in those under 3yo

Occur in winter/spring

In the United States, approximately ____ persons die each year of influenza-related illness

Transmission is by ____ 

T/F...can lead to pneumonia?

36,000

aerosol (only takes 3 particles..millions released per sneeze)

Viral 

True  (FEVEr, tachypnea, tachycardia, cyanosis, hypotension)

Congestion

Productive Cough

Malaise

Chills/Fever

What bacteria causes Tuberculosis in humans?

Anaerobe?

What is unque about it?

Destructive worldwide?

Mycobacterium tuberculosis hominis

Nope, Aerobe

Protective Waxy Capsule..helps it to stay alive in SUSPENDED ANIMAITION FOR YEARS

Yes accoutns for 26% of avoidable deaths in developing countries

What do they look for after you test positive for TB on the skin?

It will contain?
 

Ghon focus containing on a Chest X-ray

Macrophages
T cells
Inactive TB bacteria

What is Miliary TB?

Other signs of Primary TB?

Grouping of Progressive Primary TB....where mycobacterium erode blood vessels and spread throughout the body

Bacteria in sputum...Signs of Pneumonia

What is Secondary TB?

What are the signs?

What are the  3 dzs that make up the spectrum of the broader disease category COPD?

T/F Chronic emphysema and chronic bronchitis usually coexist in COPD

 Chronic bronchitis: Obstruction of small airways

Emphysema:-Enlargement of air spaces and destruction of lung tissue

Bronchiectasis-Infection and inflammation destroy smooth muscle in airways, causing permanent dilation (most common complication of chronic bronchitis)

True

Are people with ONLY a Ghon Focus-TB infection contageous?

What happens in progressive TB when teh bacteria are able to erode away blood vessels and spread?

No...mycobacterium are walled off and non-contageous

Miliary TB

Smoking is the cause of chronic bronchitis in more than ___% of the cases?

Most non-smokers with emphysema have a genetic dificiency of what?

90%

Alpha₁-antitrypsin  (Alpha AT)

Pink Puffer/Blue Bloater?

-Cannot increase respiration enough to maintain oxygen levels?

-Dyspnea so must increase ventilatory effort?

-Polycythemia?

-CorPulmonale (right ventricular hypertrophy)?

-Use accessory muscles?

BB

PP

BB

BB

PP

PP or BB?

-Barrel Chest

-Extreme Dyspnea

-Mucopurulent Sputum

-Densities in Radiographic findings

-Overinflation in Radiographic findings

-Pulmonary Hypertension

-Edema

-Heavy Cough

-Cyanosis

PP

PP

BB

BB

PP

BB

BB

BB

BB

Name this Common Repiratory Immune Dz...

-Affects millions Type 1 hypersensitivity of nasal mucosa to exogenous allergens?

-Increased responsiveness of bronchial tree to variety of stimuli (type I rxns and unknown rxn)

-Type of granulamatous dz of unknown etiology that affects blacks more than others...Heavy T_H production that result in overstimulation of CMI.

-Immune disorder caused by repeated inhalation of foreign antigens(hay, sugar cane, maple bark, mushrooms..e.tc)

  Allergic Rhinitis

Asthma

Sarcoidosis

Hypersensitivity Pneumonitis..(acute and chronic variations)

Physical factors
Exercise
Psychological stress
Chemical irritants and air pollution
Bronchial infection
Aspirin

With EXTRINSIC Asthma...what causes the acute rxn (10-20 minutes)?

What causes teh late phase rxn (4-8 hrs)?

Mast cells releasing inflammatory mediators

WBCs entering region and releasing more inflammatory mediators

Hypoxemia is defined as a partial pressure of __mmHg of Oxygen?

 What compensatory mechanism is activated to stimulate the respiratory system?

T/F...hypotension and bradycardia result from imparied fct of vital centers?

60 mm Hg

Sympathetic System

True

P_CO2 >__ mm Hg in HYPERCAPNIA

What happens in respiratory acidosis?

50 mm Hg

Increased respiration, Decreased nerve firing:
leads to  narcosis Disorientation, somnolence and even coma
ALSO: Decreased muscle contraction AND
Vasodilation which leads to
headache, conjunctival hyperemia, warm flushed skin
 

Pleural Dz's

Restriction due to Connective Tissue fibrosis?

Collapse due to air?

Pressure from Pus?

Pressure from fluid due to infection?

Firbrothorax

Pneumothorax

Empyema

Pleuritis

Traumatic Pneumothorax type

- air enters pleural cavity through the wound on inhalation but cannot leave on exhalation

-air enters pleural cavity through the wound on inhalation and leaves on exhalation

Which does not allow for any expansion of the affected lobe?

Tension

Open

Tension

Bronchogenic carcinoma
Arises from ____ cells lining the lungs.

Types

-Originate from stem cells that have become anaplastic?

-Arise from Neuroendocrine cells?

-Arise from ciliated cells and mucous cells?

epithelial

Large-cell

Small-cell

Adenocarcinoma

T/F...initially metaplasia is reversible in the phases of lung cancer?

Manifestations of Lung Cancer include? (4 discussed in class)

True...smoking must be stopped immediatley  though (i haven't had 1 in 3 weeks for those who are smirking)

Changes in organ function (organ damage, inflammation, and failure)
Local effects (e.g., compression of nerves or veins, gastrointestinal obstruction)
Ectopic hormones secreted by tumor cells (paraneoplastic disorders)
Nonspecific signs of tissue breakdown (e.g., protein wasting, bone breakdown)
 

T/F...CF is a dominant disorder in chloride transport proteins

CF pts will have lots of NaCl in their sweat?

CF may affect teh pancreatic and bile ducts?

False...It is a recessive disorder

True

True

Digestive problems
Flatulence
Steatorrhea (fat in feces)
Weight loss

Who releases Renin?

What do they measure to guage renin needs?

These cells ultimately cause what to be resorbed?

They cause what ot be secreted?

JG cells (juxtaglomerular cells located in afferent arteriole..measure afferent blood pressure)

Afferent arteriole flow and Urine flow/composition

Water and Sodium

Potassium

Specifically which pump is turned on in the DCT?

T/F..Blood osmolarity is changed along wiht blood volume with the activation of this pump?

Na/K ATPase pump

False...blood osmolarity remains unchanged

What is made more permeable by ADH?

Hence what occurs?

T/F...this has no effect on blood osmolarity?

Collecting Duct

Greater reabsorbion of Water

False...it lowers the osmolarity of blood 

What is distention and dilation of the renal pelvis and calyces, usually caused by obstruction of the free flow of urine from the kidney, leading to progressive atrophy of the kidney^.

What are 2 complications of STASIS of the URINE?

Nephrosis

Stones and Infection

Gloumerlular Dz's

-Marked by Ab presence in the glomerli..leading to inflammation

-secondary complication in which damage of basement membrane of glomerulus occurs due to DM

Glomerulonephritis

Diabetes glomeruloschlerosis

T/F...Glomerulor Dz may allow blood cells, lipids, or proteins to pass into the urine

In Schlerotic Dz amount of extracellular matrix decreases?

True

False..it increases

Nephritic or Nephrotic?

Proliferative inflammatory response

Increased permeability of glomerulus

Nephretic

Nephrotic

Nephretic Syndrome Clinical Features

Proteinuria
Hypoalbuminemia
Edema, generalized
Hyperlipidemia
Lipiduria with lipid casts in urinary sediment

Nephrotic Syndrome Clinical Features

T/F..in Nephrotic Syndrome the RAA pathway may become activated leading to HTN?

In Nephritic Syndrome what causes the Oliguria?

T/F...Nephrotic Syndrome can cause Immunosuppresion?

False...In Nephretic Syndrome this occurs

Hemodynamic changes that decrease the GFR

True...through lose of complement and Ab in leaky Glomerulus

Chronic Pyelonephritis is typically assymmetric?

Pregnancy may cause UTIs due to the constricting effects elevated Estrogen levels have on the smooth muscle of the urethra

True

False..it is a dilating effect that Estrogen has on the smooth muscles of the urethra.

Name some common causes of chronic cystitis?

Urolithiasis

Recurrent infections

Neurogenic bladder

Catheterization

Instrumentation

Benign prostatic Hyperplasia

Neoplasms in the Urinary Tract

-More often than not they are benign?

-Which is the only one found in children?

-What are the 2 cell types that commonly cause neoplasms.

- What gender is more commonly associated with neoplasms?

-What is the most common group of  neoplasms found in the kidney?

-Nope, Malignant

- Wilm's Tumor

-Epithelial Cells that line tract or "Urothelium" (a transitional cell that lines pelvis, ereter, bladder, and urethra. 

 -Men.

-Renal Cell Carcinoma (85% of neoplasms)...cancers of the pelvis (8%)..Wilms (5%)

-Wilm's Tumor is a mutation of what gene?

-What do the resulting renal cells look like as a result?

-Familial will be BILATERAL in __% of the cases?

-What is the Tx?

-WT-1

-Immature blast cells (renal blastemas)

-10%

-Surgery to remove....with chemotherapy

-What is a common risk factor for Renal Cell Carcinoma?

-What age group does this usually hit?

What be our most common sign?

Typical Kidney triad commonly found?

-There are none.

-Older Adults

-Hematuria

-No...only 10% will report with triad

-What is the most common CA of the UT?

-Most of these are epithelial neoplasms?

-What are the 3 clinical features of Bladder carcinomas?

-Grade I tumors are localized and have a high 5-year survival rate?

-Bladder cancer?

-Nope transitional neoplasms

-Hematuria, Dysuria, and Lower abdominal Pain.

True, but they tend to recur

-One of the jobs of the GI system is to absorb the food into the blood while keeping the corrosive substances and the bacteria inside the gut?

-Breaks down proteins into Polypeptides...activated by acid in stomach to become pepsin?

-Activated to trypsin in duodenum...Breaks proteins into polypeptides

-Breaks polypeptides into 2–3 amino acid peptides
so peptides can be absorbed into blood
 

True

Pepsinogen

Pancreatic Trypsinogen

Brush Border Enzymes

-Breaks triglycerides into glycerol and fatty acids

-Jejunum
Packages digested fats as _______, Passed to _____ (what organ)

Pancreatic lipases

chylomicrons, Lymph Nodes

Hemorrhage above the stomach leads to?

Hemorrhage in the intestine with blood mixing into stools

Hemorrhage into the stomach with partial digestion of blood leads to?

Hemorrhage into the intestines with large volumes of blood?

Frank Hematemesis

Occult Blood

Coffee ground Vomitus

Melana

T/F...Canker sores can be an extraintestinal manifestation of UC.

A drug used to treat, HTN, Nicorandil is associated with canker sores?

Possible Toothpaste foam involvement in canker formation?

Hormonal changes not a factor?

What Vits may be involved?

True

False..it is an Angina drug

True

False, menstration often associated

Vit. B12, Iron, and Folic acid

Oral CA:  Most tumors histologically classified as _____ cell carcinomas.

May present as ulcer, erythroplakia, nodule, or crater?

-What is this....an autoimmune disorder in which immune cells attack and destroy the exocrine glands that produce tears and saliva?

squamous

Sjogren's Syndrome

How does Sjogren's present?

Can result in neoplasm of which most are malignant?

Esophagotracheal fistula is also called what?

Dry mouth (xerostomatia)...swollen glands

Most are benign (60%)

Esophageal Atresia

WHAT CA EMBODIES ALL OF THE FOLLOWING?

-Accounts for 4% of all cancers—8000 cases per year in the United States
-Higher incidence in Asia and Africa than in the United States and Europe
-Correlates with alcohol and tobacco abuse
-More common in men than in women
-More common in blacks than in whites
-Poor prognosis—98% die in 2 years

WHat is the 2nd major cause of Ulcers?

White peeps more commonly affected than others?

Internationally, is HP a major infection?

NSAIDs

Nope, Hispanics make up 60% of US cases

Yes...about 50% infected with HP

What CA am I?

 -This common form of cancer affects 25,000 persons and causes 14,000 deaths in the United States yearly.
-It is eight times more common in Japan and Chile.
-The incidence  has decreased over the past 70 years in the United States.
-The etiology is unknown—suspect nitrosamines in food and maybe H. pylori.
 

Gastric CA

-  _________ are found in many foodstuffs, especially beer, fish, and fish byproducts, and also in meat and cheese products preserved with nitrite pickling salt.

 -What am I...? Variosities of the anal and perianal region that affect 5% of adults?

-What am I?  localized vascular lesion of colon that causes unexplained bleeding in elderly pts.  Consists of dilated, thin-walled blood vessels that serve as a anastomosis between arterial and venous blood in mucosa and submucosa of colon

  Nitrosamines

Hemorrhoids (congenital hereditary ppredisposition that may be based on weak connective tissue)

Angiodysplasia (preferentially cecum and ascending colon)

-Crohn's disease can affect any part of the gastrointestinal tract from mouth to anus?

-CD has a edematous looking lesion?

-CD is more common than UC?

-Who is more commonly affected with both UC and CD?

True...but it prefers teh terminal ileum and Colon (50%  of the time)

Nope, Cobble-stone looking lesions. 

Nope,40 per 100,000 in US...UC is 70-150 per 100,000

Jews of Eastern European descent...between 20-30 yrs old

-In enterocolitis why does the GI system secrete an exudate?

 -What does hypermotility lead to in enterocolitis?

 -What causes the 'explosive diarrhea?

 -T/F...Pain and sympathetic nervous stimulation cause the bowel to freeze in position
Reflex paralysis or paralytic ileus

What are 2 signs of inflammations that can't be expelled?

- to dilute toxins

- Vomiting

 -Food is not digested...Osmosis draws water into the bowel resulting in osmotic (or explosive) diarrhea

 -True

-Shallow breathing...board-like abdomen

Large or Small Intestinal Diarrhea?

Small Volume

Watery Appearance

Blood is Common

Leukocytes present

Large Int

Small Int

Large

Large

Which bacterial overgrowth can cause a malabsorption result in from a defective intraluminal Digestion.

How might an obstruction cause inflammation and cell damgage?

Giardia lamblia

Distension leading to ischemia.  

What is this...

An organ expands inside a membrane that will not expand
The blood vessels feeding the organ are crushed between the organ and the membrane
Blood supply is cut off

What CA am I?

Third most common cancer of internal organs
Affects 190,000 person per year in the United States

What is easiest way to avoid this?

Large Intestinal Carcinoma

Have a colonoscopy regularly ...yay

What are teh components of the "western diet" that make it a factor in Colon CA?

What are some Genetic factors involved in 20% of Colon CA...(there 3 of em)?

-High in carbs/fats...Low in fiber

- Familial adenomatous polyposis coli (FAP)

-Gardner’s syndrome
-Hereditary nonpolyposis colorectal cancer (HNPCC)
 

Classifications of Intestinal Tumors (Benign, Malignant, or non-neoplastic?)

Tubular adenoma, villous adenoma, tubulovillous adenoma?

Benign

Classifications of Intestinal Tumors (Benign, Malignant, or non-neoplastic?)

hyperplastic polyp, inflammatory polyp, juvenile polyp, Peutz-Jeghers polyp, lymphoid polyp

Non-Neoplastic

Classifications of Intestinal Tumors (Benign, Malignant, or non-neoplastic?)

adenocarcinoma, carcinoid, lymphoma, sarcoma
 

Malignant

-Is the study of chromosome number, structure, and inheritance, as applied to medical genetics.

-Chromosome defects acount for fully____ of all spontaneous first-trimester abortions.

Clinical Cytogenetics

Half

What are the relative sizes of bands we can get with each method?

Karyotype (G-banding)?

Fluorescence in situ hybridization (FISH)?
Comparative Genome Hybridization (CGH)? 

Karyotype (G-banding): 3-4 Mbp

Fluorescence in situ hybridization (FISH): 100-200 kbp

Comparative Genome Hybridization (CGH): 200 bp
 

- A complete set of chromosomes from a cell that has been photographed during  _______of mitosis (which stage) and arranged in a standard sequence

-T/F...Almost any cell with a nucleus can be used to make a karyotype
 

metaphase

True...must be nucleated (RBC would not work)

-Trisomy 13 is also called? ...Lethal?

-What causes it?

-Name the Clinical Manifestations

-Patau Syndrome...yes

-Nondisjunction during anaphase of Meiosis I (MATERNAL)

 -Most notable are facial anomalies, including hypotelorism, cleft lip and palate, ocular abnormalities, and polydactyly
-May be areas of deficient skin in the scalp and rocker-bottom feet
Anomalies of internal organs

Trisomy 18 is also called?  Deadly?

Due to?

Which is more frequent...13 or 18 Trisomy?

Clinical Ftrs?

-Edwards...yes (usually die in 1 month)

- Maternal Nondisjunction during Meiosis I

-18...1 in 7,500 births

-Multiple congenital anomalies; most notable are low birth weight, prominent occiput, tightly clenched fingers (second and fifth digits overlap third and fourth), low-set malformed ears, and rocker-bottom feet.
Internal organ malformations, especially of the heart and brain, are common.
 

Robersonian Translocation

 -For Angelman's about 10% have a mutation in the ___________ gene, which resides in this region of chromosome 15 and is imprinted.

-T/F...you can detect Prader-Willi or Angelman's with sequence analysis.

How do we Treat Angelman's?

 -ubiquitin-protein ligase E3A (UBE3A)

-True..look for imprinting center mutations

-We can't managemnet is focused on Tx of seizures. 

WHat kind of inheritance is FH (familial Hypercholesterolemia) ?

What gene is involved?

Specificaly which amino acid plays a role in inheritance?

Autosomal semi-Dominant...

LDLR gene

Alu

T/F...1 in 1 million for homozygoes for FH?

How much cholesterol is in.... LDL...HDL?

What is the ratio for that is inversely related for  risk of atherosclerosis
 

True

45%...20%

  HDL/total cholesterol ratio

Apoprotein B-100 (the only protein of LDL) binds to the ___ Receptor.

Where are these?

Hepatic LDLRs clear ~____% of LDL from the circulation by endocytosis 

LDL

The liver

75%

FH:  Monocytes infiltrate the inner lining of arteries, endocytose oxidized LDL, form _____ cells, and release cytokines that cause proliferation of ____  ____ cells of the arteries.

- For heterozygote FH...what is the first sign?

-Homozygous FH individuals usually die before age __.

foam

smooth muscles

Hypercholisteroemia (end of 1st decade of life in 95% are)

30.( their cholesterol levels are usually between 600-1000)

 FH:  Rigorous adherence to a low-fat, high-carbohydrate diet usually produces only a ___ reduction in LDL cholesterol, which is usually insufficient.

How do bile acid sequestrants help?

 10-20%

bile acids made from cholesterol…you take them out you indirectly lower cholesterol as your body makes new bile acid) 

Cystic fibrosis (CF) is what kind of genetic disorder?

What gene is involved?

What aa of this gene is involved?

How does it affect the protein?

 autosomal recessive disorder

transmembrane regulator (CFTR) gene 

DELTA –F= Deletion of Phenylalanine…508

this affects the apropriate folding of protein and it is no longer functional.
 

WHat ethnic group is affected by CF the most?

Variably expressed?

Age of onset

Any problem with the boys?

Crackers

Yep

Anywhere from neonates to adults

Yep (azospermia..little to no sperm)...with excess sodium cloride in sweat...what a sexy beast 

What are teh major clinical manifestations of CF?

pulmonary disease and malabsorption

At birth, most infants present with chronic respiratory complaints and 15-20% present with what?

Why do CF pts have poor growth?

meconium ileus

CF patients have poor growth resulting from a combination of increased calorie expenditure because of chronic lung infections and malnutrition from pancreatic exocrine insufficiency.
 

What is the chief determinant of life expectancy in CF?

Parents of an affected child face a __% risk of recurrence….

What is the carrier freq in the white population?

Lung dz (median survival age is 33 y/o)

25%

1 in 50

-ADPKD is an _____ _____ inherited dz.

-85% of ADPKD have a  mutation in ______ gene

Common Genetic disorder?

-T/F...Cyst formation in ADPKD appears to follow a "two-hit" mechanism  just like in many cancers. 

-Autosomal Dominant

 -PDK1  (ENCODES polycystin 1)

-YES ADPKD has a prevalence of 1 in 300 to 1 in 1000 in all ethnic groups studied. 

True...you must lose teh second allele (of PDK1 or PDK2) via spontaneous mutation