MUTATIONS
Mutations involving nucleotides
Point mutation
Silent
Misesnse
Nonsense
Frame shift mutation – deletions and insertions
Trinucleotide repeat sequence





Mendelian disorders
Autosomal dominant diseases
Nervous
Huntington disease
Neurofibromatosis
Myotonic dystrophy
Tuberous sclerosis
Urinary
Polycystic kidney disease
Gastrointestinal
Familial polyposis coli
Hematopoietic
Hereditary spherocytosis
von Willebrand disease
Skeletal
Marfan syndrome
Ehlers-Danlos syndrome (some variants)
Osteogenesis imperfecta
Achondroplasia
Metabolic
Familial hypercholesterolemia
Acute intermittent porphyria

Autosomal Recessive Disorders
Metabolic
Cystic fibrosis
Phenylketonuria
Galactosemia
Homocystinuria
Lysosomal storage diseases
a1 -Antitrypsin deficienc
Wilson disease
Hemochromatosis
Glycogen storage diseases
Hematopoietic
Sickle cell anemia
Thalassemias
Endocrine
Congenital adrenal hyperplasia
Skeletal
Ehlers-Danlos syndrome (some variants)
Alkaptonuria
Nervous
Neurogenic muscular atrophies
Friedreich ataxia
Spinal muscular atrophy



X-Linked Recessive Disorders
Musculoskeletal
Duchenne muscular dystrophy
Blood
Hemophilia A and B
Chronic granulomatous disease
Glucose-6-phosphate dehydrogenase deficiency
Immune Agammaglobulinemia
Wiskott-Aldrich syndrome
Metabolic
Diabetes insipidus
Lesch-Nyhan syndrome
Nervous
Fragile-X syndrome

Biochemical and Molecular Basis of Some Mendelian Disorders
Enzyme Phenylalanine hydroxylase mutation: reduced amount of enzyme causing Phenylketonuria
Hexosaminidase mutation with stop codon:
reduced amount causing Tay-Sachs disease
Adenosine deaminase mutation causing Severe combined immunodeficiency
a1 –Antitrypsin mutations: impaired secretion from liver to serum, causing emphysema and liver cirrhosis
Low-density lipoprotein receptor mutations: Familial hypercholesterolemia
Vitamin D receptor mutations: Vitamin D-resistant rickets
Hemoglobin gene Deletions: reduced amount causing Thalassemia
Hb Point mutations: abnormal structure causing Sickle cell anemia
Cystic fibrosis transmembrane conductance regulator( CFTR) mutation causingCystic fibrosis
Collagen gene mutations cause reduced amount causing Osteogenesis imperfecta; Ehlers-Danlos syndromes, etc
Fibrillin mutation causing Marfan syndrome
Dystrophin Deletion with reduced synthesis:
Duchenne/Becker muscular dystrophy
Spectrin, ankyrin of RBC mutation: Hereditary spherocytosis
Factor VIII Deletions, insertion or nonsense mutations: reduced synthesis or abnormal factor VIII causing Hemophilia A
Rb protein Deletions causing Hereditary retinoblastoma
Neurofibromin gene mutation causing Neurofibromatosis type 1

Schematic diagram illustrating the pathogenesis of lysosomal storage diseases. In the example shown, a complex substrate is normally degraded by a series of lysosomal enzymes (A, B, and C) into soluble end products. If there is a deficiency or malfunction of one of the enzymes (e.g., B), catabolism is incomplete and insoluble intermediates accumulate in the lysosomes.
Some storage disesases
Lysosomal storage diseases
Gaucher’s disease
Niemann Pick Disease
Gangliosidosis
Sphingolipidosis
Tay Sachs disease
Sandhoff’s disease
Fabry’s disease
Glycogen storage diseases
Von Gierke’s disease
McArdle’s disease
Pompe’s disease

Pathways of glycogen metabolism. Asterisks mark the enzyme deficiencies associated with glycogen storage diseases
One of the most important threats for human’s health is, undoubtedly, the genetic diseases. What is this disease is? It is a disorder caused by genetic factors and especially abnormalities in the human genetic material. Both environmental and genetic factors have roles in the development of any disease. Thanks...
ReplyDeleteResearch Medium is a market research and Global Market Insights, offering industry reports, Market Survey, custom research and consulting services to a host of key industries. Global Market Insights .
ReplyDeleteMy name is Mrs.Aisha Mohamed, am a Citizen Of Qatar.Have you been looking for a loan?Do you need an urgent personal loan or business loan?contact Dr James Eric Finance Home he help me with a loan of $42,000 some days ago after been scammed of $2,800 from a woman claiming to been a loan lender but i thank God today that i got my loan worth $42,000.Feel free to contact the company for a genuine financial service. Email:(financialserviceoffer876@gmail.com) call/whats-App Contact Number +918929509036
ReplyDeleteI wish to use your picture for Tay Sachs for a class I have. Please contact me with permission
ReplyDeleteNice reading, I love your content. This is really a fantastic and informative post. Keep it up and if you are looking for MBBS In Kyrgyzstan then visit Standyou.
ReplyDeletembbs in Philippines
ReplyDeleteEvery year, almost 8000 foreign students take admission in Philippines Medical universities and out of which around 50% are Indian students. The standard of education in Philippines universities is well known around the world. Thousands of doctors from these medical universities are sent to various countries like USA and UK every year. There are around 2299 higher educational institutions and 40 medical colleges. The main benefits of pursuing MD degree from
Top Medical Colleges in Philippines :
EMILIO AGUINALDO COLLEGE OF MEDICINE
UNIVERSITY OF PERPETUAL HELP SYSTEM DALTA
LYCEUM NORTHWESTERN UNIVERSITY
DAVAO MEDICAL SCHOOL FOUNDATION
SOUTHWESTERN UNIVERSITY
Top Searched Topics on MBBS in Philippines
study mbbs in philippines
philippines medical colleges list
best medical colleges in philippines for indian students
philippines medical colleges
best medical colleges in philippines
mci approved medical colleges in philippines
for more information contact us : +91 90329 55688
Thanks for sharing, nice post! Post really provice useful information!
ReplyDeleteGiaonhan247 chuyên dịch vụ vận chuyển hàng đi mỹ cũng như dịch vụ ship hàng mỹ từ dịch vụ nhận mua hộ hàng mỹ từ trang ebay vn cùng với dịch vụ mua hàng amazon về VN uy tín, giá rẻ.
There are various types of genetic diseases and its very hard to get cure from this you can take some medicines for some relief.
ReplyDeletetretiva-capsule | isotretinoin accufine
Phentermine is so designed to boost energy, stimulate metabolism, and strongly suppress your appetite. Resurge reviews
ReplyDeleteHealth Hint
ReplyDeleteHealth Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
ReplyDeleteHealth Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
ReplyDeleteHealth Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
ReplyDeleteHealth Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Health Hint
Online Generic Medicine is an online pharmacy store that provides the generic medicine and a medication. Well it is said that Medicines are the Source to life, and also Medicines are the Honeydew for Human Life. We at Online Generic Medicines are the most trustable brand in sending Medicines Online at your way as per user perspective. We provide the best forms of Medicines with the exact dosages and the appropriate contains which are needed also at the most affordable prices for you. The medicines provided by us to the users are Authentic and the most trusted ones.
ReplyDeletebuy hydroxychloroquine online | nadibact cream price | buy careprost eye drop | Buy demadex online | Chloroquine Malaria | Ritomune 100mg | hiv prevention pill
UV GULLAS COLLEGE OF MEDICINE is one of Top Medical College in Philippines in Cebu city. International students have the oppertunity to study medicine in phillipines at affordable cost and world class University. The college has successful alumni who have achieved well in the fields of law, business, politics, academe, medicine, sports and other endeavors. At University of the Visayas, we prepare students for a global competition.
ReplyDeleteDirect MBBS Admissions Open: 2020-21
Mobile No: +91 90329 55688
Apply Now: https://www.careerplus.org.in/philippines-medical-college/uv-gullas-college-of-medicine
ReplyDeleteDo you need a personal loan? Or even expand your business? Do you need
money for inventory, cash flow, expansion or advertising? Do you want
to start a business and have no or low capital? Do you need
refinancing? Want to avoid a lengthy loan process with hidden fees and
no guarantee of approval?
C.E.O. Deby Johnson.
debyfinancingloans@gmail.com
Whatsapp Number: +447459797459
Whatsapp Number: +918375004762
DEBY FINANCING LOANS COMPANY
Studying MD / MBBS In Philippines has increased among Indian students as it produces thousands of successful doctors in the recent past. Medical Universities in Philippines provides High Quality Medical Education combined with great hands on practice for an affordable cost have attracted many Indians to choose Philippines Medical Colleges over other MBBS Abroad destinations.
ReplyDeleteI found your this post while searching for some related information on blog search...Its a good post..keep posting and update the information. icd 10 procedure codes lookup
ReplyDeleteHey, I came across your article it was so informative. I would like to share a similar article as like yours.
ReplyDeleteKCR CONSULTANTS
MBBS in Philippines Wisdom Overseas is authorized India's Exclusive Partner of Southwestern University PHINMA, the Philippines established its strong trust in the minds of all the Indian medical aspirants and their parents. Under the excellent leadership of the founder Director Mr. Thummala Ravikanth, Wisdom meritoriously won the hearts of thousands of future doctors and was praised as the “Top Medical Career Growth Specialists" among Overseas Medical Education Consultants in India.
ReplyDeleteWhy Southwestern University Philippines
5 years of total Duration
3D simulator technological teaching
Experienced and Expert Doctors as faculty
More than 40% of the US returned Doctors
SWU training Hospital within the campus
More than 6000 bedded capacity for Internship
Final year (4th year of MD) compulsory Internship approved by MCI (No need to do an internship in India)
Vital service centers and commercial spaces
Own Hostel accommodations for local and foreign students
Safe, Secure, and lavish environment for vibrant student experience
All sports grounds including Cricket, Volleyball, and others available for students
Thank you so much for sharing all this wonderful information! We hope you will sharing some more information,
ReplyDeleteWe really enjoy your blog & content.For more information you can visit:naltrexone 50 mg tablet
Buy Soma Online (Carisoprodol) Without a Prescription at Online Generic Medicine get medicine delivered in the USA, UK & Australia, buy soma online Buy Dapoxetine Online (Priligy) from OnlineGenericMedicine and Get the generic medicine delivered in the USA, UK & Australia for the treatment of premature ejaculation.dapoxetine online Buy Careprost Eye Drops Online a Bimatoprost Ophthalmic Solution . careprost and more information visit here Onlinegenericmedicine
Overall in excess of 1,000,000 ladies are determined to have bosom cancer consistently. https://www.drpriyatiwari.com/
ReplyDelete