MEDICAL GENETICS
Genetics of Common Diseases
Now entering USMLE_Step_1 subroom.
7:42 PM roxanita has joined subroom: USMLE_Step_1
7:43 PM [usmle_guy] hi rox and mmw
7:43 PM [usmle_guy] sorry i'm late, just got home
7:43 PM [roxanita] I just got here, I had problems when signing in
7:43 PM [mmw] hi
7:45 PM [roxanita] do you guys want to start?
7:45 PM [mmw] yes
7:46 PM [roxanita] “GENETIC OF COMMON DISEASES”
7:47 PM [mmw] colon cancer ,breast cancer, DM
7:47 PM [usmle_guy] hi lenh
7:47 PM [lenhoxung] Hi
7:49 PM [roxanita]So guys why do we say that most common diseases are multifactorial?
7:49 PM [mmw] because we cannot determine just by the single gene defect for that kind of disease
7:49 PM [usmle_guy] more than one genetic factor involved
7:49 PM [lenhoxung] agree
7:49 PM [roxanita] very good![]()
7:50 PM [roxanita] because most of them like heart dis, Ca, DBM have not only a GENETIC COMPONENT (usually POLYGENIC) but also ENVIRONMENTAL COMPONENT
7:50 PM [mmw] yes rox
7:51 PM [lenhoxung] yes
7:51 PM [roxanita] that's why is multifactorial=many factors, like smoking for example
7:51 PM [roxanita] What the "NORMAL DISTRIBUTION" means?
7:51 PM [usmle_guy] falls into bell shaped curve or normal distribution
7:51 PM [roxanita] yes usmle_guy
7:51 PM [mmw] above the multifactorial threshold we will have disease or not?
7:52 PM [roxanita] yes
7:52 PM [roxanita] I think when TRESHOLD is low the PREVALENCE of disease is high right?
7:53 PM [lenhoxung] yes
7:53 PM [roxanita] because the multiple factors are involved in the cause of the traits (disease) they tend to follow a NORMAL DISTRIBUTION, we visualize it as a BELL SHAPED
7:53 PM [roxanita] for example? BLOOD PRESSURE, HEIGHT, WEIGHT, IQ
7:54 PM [mmw] heart disease
7:54 PM [lenhoxung] CA
7:55 PM [roxanita] and it really has a bell shape
7:55 PM [usmle_guy] it does look like a bell![]()
7:55 PM [mmw] hi zoya
7:55 PM [roxanita] what were you saying about Treshold mya?
7:56 PM [mmw] I know what is above the threshold ,will have disease
7:57 PM [roxanita] right, it's like an action potential, once it reaches the treshold the whole process will occur
7:57 PM [mmw] I don't understand much about the bell shape
7:58 PM [usmle_guy] this is an important concept in biostats and epi as far as the standard deviation calculations and normal distributions. usually at least one question on exam
7:58 PM [mmw] male threshold is less than female treshold
7:59 PM [mmw] yeh u know about my **![]()
7:59 PM [usmle_guy] cant be as bad as my biochem![]()
8:00 PM [lenhoxung] mmw. that applies for the general or just for a specific disease?
8:00 PM [roxanita] look mya we are going to review biostat better, but just have in mind that, as usmle_guy said we should see it as a graphic of STD , for this you just need to remember this BELL SHAPED as a Normal distribution for multifactorial diseases 8:00 PM [mmw] specific disease like heart disease i think lenh
8:01 PM [lenhoxung] yes, that ws i thought
8:01 PM [mmw] thanks rox i remember now
8:01 PM [roxanita] Lenh as they mention on the top of the page, diseases as Heart Dis, Cancer, Diabetes
8:02 PM [lenhoxung] oh yeah, tx rox
8:02 PM [roxanita] and also values as Height, Weight and IQ will have this “normal distribution” in a population
8:03 PM [roxanita] for other specific traits with more genetic dominant component it may vary but let's continue![]()
8:03 PM [roxanita] usmle_guy you mentioned that TRESHOLD is lower for males?
8:04 PM [usmle_guy] i think that was mmw
8:04 PM [mmw] yes
8:04 PM [roxanita] as we know the expression of the disease occurs when a specific TRESHOLD is reached
8:05 PM [mmw] ok
8:05 PM [roxanita] and we have seen through all the genetic notes that males overall are more affected than females regarding genetic diseases right?
8:06 PM [roxanita] that's why for Males the treshold is LOW
8:06 PM [an_bo_al] hello everyone
8:06 PM [roxanita] Hi an-bo![]()
8:06 PM [usmle_guy] hi an bo al
8:06 PM [roxanita] so when is easier to reach the treshold the prevalence of disease will be higher or lower?
8:07 PM [mmw] higher i think
8:08 PM [roxanita] Right mya
8:08 PM [mmw] thanku buddy
8:08 PM [an_bo_al] I heard there are some first aid qs here but i cannot find them
8:08 PM [roxanita] if the treshold is easier to reach the prevalence will be higher
8:08 PM [roxanita] everybody agree?
8:08 PM [an_bo_al] yes
8:08 PM [lenhoxung] yes
8:09 PM [mmw] agree
8:09 PM [mmw] i got the concept rox
8:09 PM [usmle_guy] look on the right of this chat you will see some text in boxes. the one like 5th down that says usmle step 1 questions are the first aid questions....just pick the subject and hit start
8:09 PM [roxanita] What are are the Recurrence Risks for Multifatorial diseases?
8:11 PM [mmw] in siblings 4.5% i think
8:11 PM [mmw] uncle-niece risk 0.1%
8:11 PM [mmw] 1st cousin risk 0.05%
8:12 PM [mmw] am i right rox?
8:12 PM [roxanita] yes mya, and as we know when we have a SINGLE-GENE DISORDER the mx of gene action is understood and the RECURRENCE RISK can be derived based on some principles of inheritance right?
8:12 PM [roxanita] BUT........
8:13 PM [roxanita] But with MULTIFACTORIAL diseases we have to use EMPIRICAL RECURRENCE RISKS
8:13 PM [roxanita] in the right margen of the page we have the RECURRENCE RISKS for this kind of diseases?
8:14 PM [lenhoxung] yes i c
8:14 PM [mmw] yes as RR ( recurrent risk ) increase the # of affected relatives increases
8:14 PM [roxanita] what features do we have here?
8:14 PM [roxanita] 1st, are estimated empirically
8:15 PM [mmw] as RR inc --->severity of the disease expression inc
8:15 PM [roxanita] right![]()
8:15 PM [usmle_guy] agree
8:15 PM [roxanita] also increases if the proband is a female
8:16 PM [roxanita] because a member fo the lower risk it's suposse to be a femalE
8:16 PM [roxanita] what else?
8:17 PM [usmle_guy] i just walked in right before the chat, so i must confess that i didn't read this far![]()
8:17 PM [roxanita] it's ok usmle_guy
8:18 PM [roxanita] Let's talk about NEURAL TUBE DEFECT
8:18 PM [usmle_guy] high AFP
8:18 PM [mmw] incr AFP
8:19 PM [roxanita] thanks mya![]()
8:20 PM [roxanita] yes mya, so here in NTD's the risk for siblings is 2.5% which is much higher than risk for normal population
8:21 PM [mmw] I am sorry I made all of u confused I think
8:21 PM [roxanita] but there is a vitamin related to the prevention of this defect which is?
8:21 PM [lenhoxung] Folic acid
8:21 PM [roxanita] right Lenh
8:22 PM [roxanita] Folic Acid can prevent 50-70% of NTD's if taken periconceptionally as dietary suplem
8:22 PM [usmle_guy] when to give follic acid to prevent neural tube defects in newborn?
8:22 PM [usmle_guy] read my mind rox
8:23 PM [roxanita] What about studies on TWINS?
8:23 PM [roxanita] what's the difference between MZ and DZ genetically talking?
8:24 PM [mmw] 6 months prior to the pregnancy I think usmle!
8:24 PM [roxanita] anybody ? : (
8:25 PM [mmw] mono = identical twins
8:25 PM [lenhoxung] MZ is exactly the same about genetic meterial
8:25 PM [usmle_guy] dizygotic are fraternal twins
8:25 PM [roxanita] yes
8:25 PM [lenhoxung] DZ are sames as sibling
8:25 PM [usmle_guy] two eggs are fertilized by two separate sperm to create two embryos
8:26 PM [usmle_guy] MZ are identical twins, one egg is fertilized by one sperm and then splits
8:27 PM [roxanita] so genetically talking MONOZYGOTES we expect CONCORDANCE of 100%
8:27 PM [lenhoxung] yes rox
8:27 PM [mmw] in DZ C=50%
8:27 PM [roxanita] right mya, just like any sibling
8:28 PM [roxanita] What is CONCORDANCE?
8:28 PM [usmle_guy] if you learn better with pics like me here is DZ pic http://twinshost.homestead.com/files...altwinning.GIF and MZ pic http://twinshost.homestead.com/files...altwinning.GIF
8:29 PM [lenhoxung] they share same traits
8:29 PM [roxanita] right, Concordance means they share the same TRAITS, or genetic information like in MZ they have 100% concordance
8:29 PM [mmw] thanku rox
8:29 PM [roxanita] if they do not share are DISCORDANTS
8:30 PM [roxanita] but even sharing the same traits, the expression of disease may vary depends on the Environment and condtitions where these twins were raised
8:31 PM [lenhoxung] thanks rox
8:32 PM [an_bo_al] : multifactorial inheritance
8:32 PM [roxanita] so we call those other factors "BIASES"
8:33 PM [roxanita] right an-bo![]()
8:33 PM [mmw] yes
8:33 PM [an_bo_al] youre good roxa :cl
8:33 PM [roxanita] in HERITABILITY we got a nice formula which we can use to measure the HERITABILITY of a TRAIT
8:34 PM [lenhoxung] Heritability= Cmz-Cdz/1-Cdz
8:34 PM [roxanita] right LENH] HERITABILITY=(Cmz – Cdz) / (1 – Cdz)
8:35 PM [roxanita] being C = Concordance
8:37 PM [roxanita] so HERITABILITY is the proportion of variation in a trait causes by genes and we got the formula![]()
8:38 PM [usmle_guy] ok
8:38 PM [roxanita] How is the HERITABILITY with ALCOHOLISM ?
8:40 PM [lenhoxung] i dont know that
8:40 PM [usmle_guy] is it multifactorial???
8:40 PM [roxanita] the studies shown that even with other environm factors, the Heritability for OH is much higher in MZ than DZ
8:41 PM [roxanita] but it's also multifactorial usmle_guy
8:41 PM [roxanita] OH: MZ=0,6 DZ=0.3
8:41 PM [lenhoxung] 3/7
8:42 PM [an_bo_al] where did you get that from?
8:42 PM [roxanita] and for SCHIZOPHRENIA?
8:42 PM [lenhoxung] about 43%?
8:43 PM [usmle_guy] 1% of general population has schizophrenia
8:43 PM [roxanita]right, for SCHIZOPHRENIA the prevalence in the population is 1% but for those with family background it can be as high as 10%
8:43 PM [roxanita] sad huh![]()
8:43 PM [usmle_guy] amazingly high percentage....that's why it stuck in my head
8:43 PM [roxanita] and for adopted like 8%, still very high
8:44 PM [roxanita] that's why we can't deny the genetic etiology in this problem, really high huh?
8:44 PM [an_bo_al] it is really common to see schizo in pt w history
8:45 PM [roxanita] What about Coronary Heart disease?
8:45 PM [usmle_guy] #1 cause of death in u.s.
8:46 PM [lenhoxung] 2-7 times higher in individiual with family history
8:46 PM [an_bo_al] similar
8:47 PM [lenhoxung] the more family menber have CHD, the higher the risk.
8:47 PM [lenhoxung] and worse if more females
8:47 PM [lenhoxung] and age<55
8:48 PM [roxanita] right guys and here it applies that: Risk is higher if more family members affected, if more females affected and if the onset was at early age <55
8:48 PM [lenhoxung] yes rox
8:48 PM [microphage] hey guys, sorry I couldn't reply earlier, my mac doesn't like Java very much![]()
8:48 PM [roxanita] hey micro![]()
8:48 PM [microphage] Hey Rox
8:49 PM [usmle_guy] no problem micro. welcome to the chat *welcome*
8:49 PM [microphage] Thanks![]()
8:49 PM [roxanita] What's important about LDL Receptor-Associated Familial Hypercholesterolemia? what features we get here?
8:51 PM [roxanita] let’s start…1) Mutation on LDL receptor, so we have a lack or disfunction of this receptor
8:51 PM [usmle_guy] agree, LDL receptor defect
8:51 PM [roxanita] so if we don't have receptors what happen?
8:52 PM [usmle_guy] high cholesterol circulating on blood
8:52 PM [lenhoxung] increase circulating LDL levels
8:52 PM [an_bo_al] manifested by:
8:52 PM [roxanita] remember that this is a AUTOSOMAL DOMINANT disease
8:53 PM [roxanita]clinic: Increases risk of Coronary disease
8:53 PM [an_bo_al] ok and clinically?
8:54 PM [lenhoxung] 3-4 times higher for heterozygotes
8:54 PM [roxanita] XANTHOMAS on eyelids, skin and tendons
8:54 PM [lenhoxung] in CHD
8:54 PM [usmle_guy] The prevalence of heterozygous FH is approximately 1 case per 500 persons. The prevalence of homozygous FH is 1 case per 1 million persons.
8:54 PM [an_bo_al] nice![]()
8:54 PM [roxanita] accelerated atherosclerosis
8:54 PM [lenhoxung] u read my mind usmle
8:54 PM [roxanita] now…"CANCER"
8:55 PM [roxanita] 2nd leading cause of death iN US *)
8:55 PM [roxanita] right usmle-guy
8:55 PM [usmle_guy] agree, cancer is 2nd leading cause of death in u.s.
8:56 PM [usmle_guy] we mentioned heart disease as #1, cancer #2....what is number 3?
8:56 PM [roxanita] and we can attribute 1/3 of cases to what common environmental habit?
8:56 PM [usmle_guy] smoking
8:57 PM [roxanita] right CIGARRETTE SMOKING :an
8:57 PM [usmle_guy] wow....that guy really looks like he's smoking
8:57 PM [roxanita] and another third to what other factor very common in US?
8:57 PM [roxanita] lol
8:57 PM [usmle_guy] Diet??
8:58 PM [roxanita] yes Dietary Factors
8:58 PM [usmle_guy] STROKE is 3rd leading cause of death in u.s.
8:59 PM [an_bo_al] well what about EtOH?
8:59 PM [roxanita] etoh?
8:59 PM [an_bo_al] Alcohol is one of the most important risk factors
8:59 PM [usmle_guy] agree that alcohol is a risk factor too....not quite as high as smoking and diet as far as cancer deaths because those 2 lead to lung and colon cancer which are relatively common and deadly....bad combo
8:59 PM [roxanita] Inherited Cancer Syndromes are usually the result of a GERMLINE MUTATION of what kind of genes?
9:00 PM [roxanita] when we talk about CANCER we better remember some kind of GENES which will be related to this or that type of cancer, remember guys the name of these genes?
9:00 PM [lenhoxung] Proto-Oncogene or Tumor Suppressor Gene
9:00 PM [roxanita] Right Lenh![]()
9:02 PM [an_bo_al] right
9:02 PM [roxanita] a mutation in either a Tumor Suppresor Gene or Proto Oncogen will be responsible for these disease expression
9:02 PM [usmle_guy] hi field trip
9:03 PM [an_bo_al] prototipe disease of tumor supressor gene?
9:03 PM [roxanita] what has to happen to these genes to mutate?
9:03 PM [roxanita] for example a Protooncogen, what is its normal function?
9:04 PM [mmw] cell growth
9:04 PM [roxanita] right![]()
9:05 PM [an_bo_al] replication\transcription
9:05 PM [roxanita] so, the mutation of this kind of gene will be because a GAIN OF FUNCTION, it just start dividing like crazy :gu
9:05 PM [mmw] yes gain of fxn
9:05 PM [roxanita] and what about TUMOR SUPPRESOR?
9:06 PM [mmw] mut:loss of fxn for tumor supressor
9:06 PM [lenhoxung] prevent tumor formation
9:06 PM [usmle_guy] loss of function
9:06 PM [roxanita] right, Tumor Supressor Gene main function is to CONTROL CELL PROLIFERATION
9:06 PM [mmw] slowing up cell growth
9:07 PM [roxanita] so the mutation of this Supressor Gene would cause LOSS OF FUNCTION
9:07 PM [mmw] yes rox thanks
9:07 PM [roxanita] In RETINOBLASTOMA what is the problem? what kind of gene is related here?
9:08 PM [an_bo_al] Supressor
9:08 PM [an_bo_al] Rb gene
9:08 PM [mmw] mutataion in the RB gene and also the enviromental cause the other allele to become mutant too
9:08 PM [lenhoxung] Supressor on chr 13
9:08 PM [roxanita] right an-bo![]()
9:09 PM [roxanita] a mutation of the RB1, a Tumor Suppressor Gene on Chr 13 is the cause
9:09 PM [mmw] yes
9:09 PM [an_bo_al] mmw actually it depends if it is familiar form or not
9:10 PM [roxanita] but remember that it is not determinant for this mutation only
9:10 PM [mmw] yes an_bo_al i agree
9:10 PM [lenhoxung] yes
9:10 PM [roxanita] here we should remember the "TWO HIT MODEL"
9:10 PM [an_bo_al] described by...
9:10 PM [an_bo_al] rox is Knudson's hyphotesis
9:10 PM [roxanita] Thanks An_bo I didn't know that![]()
9:10 PM [mmw] first hit is inherited
9:11 PM [roxanita] right
9:11 PM [roxanita] and second?
9:11 PM [mmw] second is the somatic mutation in one somatic cell in the body
9:11 PM [usmle_guy] agree
9:11 PM [roxanita] yes the SECOND MUTATION must occur in the RETINOBLAST to cause the tumor formation
9:12 PM [lenhoxung] agree rox
9:12 PM [mmw] yes
9:12 PM [an_bo_al] and in sporadic nonfamilial
9:12 PM [an_bo_al] ?
9:13 PM [roxanita]![]()
9:13 PM [mmw] peneterance for heterozygous gene carrier is 90%
9:13 PM [roxanita] We also have this "TWO-HIT" model mutation in other inherited neoplasias like?
9:13 PM [an_bo_al] both deletions occur as somatic mutations
9:14 PM [mmw] breast cancer
9:14 PM [lenhoxung] familiar breast cancer, colon cancer, melanoma, neurofibromatosis
9:14 PM [roxanita] right others like: familial breast Ca, fam colon Ca, fam melanoma and Neurofibromatosis
9:14 PM [mmw] familial colon cancer,
9:15 PM [roxanita] and what about mutations in PROTO_ONCOGENES?
9:16 PM [mmw] gain of function
9:17 PM [roxanita] we got here for example the RET proto-oncogen mutation related with Multiple endocrine neoplasia: MEN 2A and MEN 2B
9:17 PM [mmw] i mean mutation of oncoggen results gain of function
9:18 PM [roxanita] right mya
9:19 PM [mmw] and also medullar thyroid cancer i think
9:19 PM [usmle_guy] some other examples are ras: a signal transduction molecule myc: a transcription factor src: a protein tyrosine kinase.
9:19 PM [roxanita] another proto-oncogen mutation is related with CDK4 p.o. which CAUSEs Familial Melanoma
9:20 PM [lenhoxung] CDK4 proto oncogene
9:20 PM [mmw] familia melanoma
9:20 PM [lenhoxung] yes mmw
9:20 PM [roxanita] cigarrete smoking causes the mutation of which somatic gene?
9:21 PM [lenhoxung] p53 gene
9:22 PM [roxanita] important gene related with Lung Cancer p53 because p53 is related with DNA repair so if mutated damage cells will keep going causing tumors
9:23 PM [mmw] thanku rox
9:23 PM [roxanita] hey guys it's pretty late for our chat, I am sorry again I over extended it and we didn't finish![]()
9:23 PM [usmle_guy] thats ok, we started a little late anyway
9:23 PM [roxanita] just some important genes ok
9:23 PM [mmw] yeh
9:23 PM [lenhoxung] agree
9:24 PM [roxanita] for BREAST CANCER?
9:24 PM [mmw] BRCA1 on cr 17
9:24 PM [lenhoxung] BRCA1 & BRCA2
9:24 PM [mmw] BRCA 2 cr 13
9:24 PM [an_bo_al] her2 neu
9:25 PM [roxanita] this is interesting, cause here we have a good example of relation between genes and environment
9:25 PM [usmle_guy] agree BRCA
9:25 PM [roxanita] yes guys BRCA 1 gene in Cr 17 (also related with ovarian Ca) and BRCA2 gene in Cr 13
9:26 PM [roxanita] but don't forget that cigarrete smoking is also related with Breast cancer so also mutation in p53 tumor suppressor gene will be involved
9:26 PM [mmw] ok
9:27 PM [lenhoxung] yes
9:27 PM [usmle_guy] agree
9:27 PM [roxanita] isn't this interesting?![]()
9:27 PM [lenhoxung] oh yeah
9:27 PM [usmle_guy] yes![]()
9:27 PM [mmw] yeh yeh yeh
9:27 PM [roxanita] What about Colon cancer?
9:27 PM [mmw] APC
9:28 PM [lenhoxung] APC and several HNPCC genes
9:28 PM [mmw] APC on cr 5 and HNPCC
9:28 PM [roxanita] also share THE "2Hit model" by Knudson's teacher![]()
9:28 PM [an_bo_al] very well rox
9:28 PM [roxanita]thanks an_bo
9:28 PM [usmle_guy] cea
9:28 PM [usmle_guy] oops, thats a tumor marker
9:28 PM [usmle_guy] apc and hnpcc
9:30 PM [roxanita] so in Colon cancer we have the mutation of APC (adenomatous polyposis coli) gene oN Cr5, which is A SUpressor gene
9:31 PM [roxanita] but there is another kind of colon cancer related with HEREDITARY NONPOLYPOSIS COLORECTAL CANCER (HNPCC)
9:31 PM [mmw] what about in alzheimer dis?
9:32 PM [roxanita] in Alzheimer disease?
9:33 PM [roxanita] very often subject in step 1
9:33 PM [an_bo_al] what's very often asked? rox
9:33 PM [roxanita] alzheimer, cause is very common in elderly in US
9:33 PM [roxanita] in Alzheimer the mutation is on the Cr21 gene that encodes Beta-amyloid precursor protein (BAPP)
9:33 PM [mmw] BAPP,presenillin,apolipoprotein E
9:35 PM [roxanita] so because the mutation of BAPP and we will have a build up of beta amyloid plaques in the brain![]()
9:35 PM [roxanita] don't forget is very often in Down syndrome
9:35 PM [mmw] yes
9:36 PM [roxanita] early onset of alzheimer are related with mutation in what gene?
9:36 PM [mmw] presenilllin gene on cr 1 and 14
9:36 PM [roxanita] right
9:37 PM [roxanita] and ApoE, why is it important?
9:38 PM [lenhoxung] mutation in apo. e incre susceptibility to late onset form, relate to amyloid clearance in the brain
9:38 PM [roxanita] remember BAPP like instead of GRANPA like BIGPA= BAPP, well it can help![]()
9:39 PM [lenhoxung] good tip, rox
9:39 PM [roxanita] yes Lenh very good ApoE related with late onset
9:40 PM [roxanita] because ApoE is related with amyloid clearance in the brain
9:40 PM [mmw] thanks rox and lenh
9:40 PM [mmw] yeh
9:41 PM [roxanita] Melanoma is related with what gene mutation?
9:41 PM [mmw] p16
9:41 PM [mmw] CDK4
9:42 PM [roxanita] right "p16 tumor suppressor gene" or the "CDK4 proto oncogen"
9:42 PM [roxanita] last one DIABETES
9:42 PM [roxanita] Type 1 Diabetes....
9:43 PM [mmw] glucokinase ,insulin promoter factor and 2 hepatic nuclease factor
9:43 PM [roxanita] which immune ceel is related with pancrea destruction here in DB1
9:43 PM [usmle_guy] hla dr3 qand 4
9:43 PM [lenhoxung] yes usmle
9:44 PM [mmw] MHC II
9:44 PM [roxanita] yes mutation in the II MHC is related
9:45 PM [roxanita] but DB1 is considered as an AUTOIMMUNE DISEASE because the self reactive T Cells infiltrate and destroy the insulin producing islet cells in the pancreas
9:46 PM [roxanita] agree?![]()
9:46 PM [usmle_guy] beta islet cell antibodies in 80%
9:46 PM [mmw] yes rox
9:46 PM [usmle_guy] agree rox
9:46 PM [an_bo_al] yes
9:46 PM [roxanita] Type 2 Diabetes
9:47 PM [usmle_guy] multifactorial inheritance for type 2
9:47 PM [mmw] agree
9:47 PM [roxanita] there are no specific genes here right![]()
9:47 PM [usmle_guy] 90% concordance rate with identical twins
9:47 PM [roxanita] right, multifactorial
9:47 PM [mmw] agree usmle
9:48 PM [roxanita] what IS MODY?
9:48 PM [mmw] maturity onset diabetes of the young
9:48 PM [usmle_guy] Maturity Onset Diabetes of the Young
9:49 PM [roxanita] when it's seen in individuals younger than 25 y
9:49 PM [roxanita] right guys and DBM it's also AD
9:49 PM [mmw] yes
9:49 PM [roxanita] and here we have the mutation of what mmw said before
9:49 PM [roxanita] Glucokinase, Insulin promoter factor, and two hepatic nuclear factors
9:50 PM [mmw]
9:50 PM [roxanita] answer this questions: …...
9:50 PM [roxanita] Defect in Insulin production, which type?
9:51 PM [usmle_guy] type 1
9:51 PM [lenhoxung] 1
9:51 PM [roxanita] Insulin Resistance defect? which type?
9:51 PM [mmw] 2
9:51 PM [roxanita] Early age of onset?
9:52 PM [lenhoxung] 1
9:52 PM [roxanita] ok
9:52 PM [roxanita] Autoimmune disease?
9:52 PM [usmle_guy] type 1
9:52 PM [mmw] 1
9:52 PM [lenhoxung] 1
9:52 PM [roxanita] Obesity is often causing insulin resistance?
9:52 PM [usmle_guy] 2
9:52 PM [lenhoxung] 2
9:52 PM [mmw] 2
9:53 PM [roxanita] High Heritability?
9:53 PM [mmw] 2
9:53 PM [usmle_guy] 2
9:53 PM [lenhoxung] 2
9:53 PM [roxanita] well guys i know we haven't finished both chapters but don't you feel motivated to keep reading and finish all Genetics![]()
9:53 PM [mmw] yeh
9:54 PM [mmw] thanku for the tips buddy
9:54 PM [roxanita] It's kind of interesting![]()
9:54 PM [lenhoxung] thank you so much guys
9:54 PM [an_bo_al] thanks
9:54 PM [mmw] yeh very very interesting
9:54 PM [mmw] :cl
9:54 PM [roxanita] thank YOU guys![]()
9:54 PM [an_bo_al] do you have a schedule\topics posted?
9:55 PM [usmle_guy] http://usmle.valuemd.com/ftopic56.html for schedule
9:55 PM [usmle_guy] have a great weekend
9:55 PM [roxanita] ok guys, Good night everybody
9:55 PM [lenhoxung] Good night
9:55 PM [usmle_guy] good night all
9:55 PM [an_bo_al] bye
9:55 PM [roxanita] thanks for coming an_bo_al
9:56 PM [mmw] good night all thanku
9:56 PM [roxanita] See you tomorrow at 1pm EST. Bye


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