01 ??????? introduction to medical Genetics

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01 ???????introduction to medical Genetics
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• Arrangement
• Introduction
• What is Medical Genetics?
• Genetic disease

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Arrangement

• Teacher
• Liu Wen PhD associate prof
• (liuwen_at_shmu.edu.cn)
• Liu Xiaoyu PhD assistant Prof
• (liubio_at_163.com)
• Alexander Endler  PhD

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• 1.5 credits
• Lecture2 classes/week (9 weeks)
• Lab4 classes/week (4 weeks)

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Week Date Day Course Week Date Day Course Week Date Day Course Week Date Day Course Content Teacher Content Teacher Content Teacher
10 11.12 Thu 3-4 Introduction / Medical Genetics Liu Wen
11 11.19 Thu 3-4 Single Gene Disorder Alexander Endler
12 11.27 Fri 5-8 Preparation of chromosome samples Liu Xiaoyu
12 11.26 Thu 3-4 Polygene Disorder / Mitochondrial Disease Liu Wen
13 12.4 Fri 5-8 G banding Liu Xiaoyu
13 12.3 Thu 3-4 Chromosomal Disease Alexander Endler
14 12.11 Fri 5-8 Extraction of Genomic DNA Liu Xiaoyu
14 12.10 Thu 3-4 Genetics and Cancer/ Birth defect Liu Wen
15 12.18 Fri 5-8 Detection of gene mutation by PCR Liu Xiaoyu
15 12.17 Thu 3-4 Students Presentation Liu Wen
16 12.24 Thu 3-4 Students presentation Liu Wen
17 12.31 Thu 3-4 Students presentation Liu Wen
18 1.7 Thu 3-4 Exam Liu Wen


Classroom2608 Classroom2608 Classroom2608 Classroom2608
Lab13-214 Lab13-214 Lab13-214 Lab13-214
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• Text book
• Reference

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• Exam
• Presentation 50
• Review OR Exam 30
• Lab report 20

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Introduction
46,XY karyotype
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Androgen insensitivity syndrome, AIS

• Mechanism
• Caused by mutations of the gene encoding the
  androgen receptor.
• symptoms
• A person with complete androgen
  insensitivity syndrome (CAIS) has a female
  external appearance, and suppressed menstruation.

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Introduction

• Mechanism

47,XXY (extra chromosome ) Klinefelter sydrome
mania ??
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Introduction

• Disease caused by (or related to)
  environmental stress.
• Bird Flu (upper)
• SARS (right)

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Introduction

• Disease caused by (or related to)
• genetic factors.

Down syndrome
Many of the common physical features Low IQ
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Introduction

• Duchenne muscular dystrophy
• caused by a gene mutation

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Introduction
connate rachitis
Conjoined Twins

• diseases caused by the combined action of gene
  and environment.

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Introduction

• Genetic Disorders disorders caused wholly or
  partly by genetic factors.

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What is Medical Genetics?

• human genetics

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What is Medical Genetics?

• human genetics
• The science of variation and
  heredity in human beings.

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widow peak
Evaginable thumb
Hair line of the forehead
Free/attached ear lobe
Tongue rolling
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What is Medical Genetics?

• Medical Genetics
• Medical genetics deals with human genetic
  variation of medical significance. Major
  recognized areas of specialization are the study
  of chromosomes, and the structure and function of
  individual genes.

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What is Medical Genetics?

• Medical Genetics
• 
  Wilsons disease

Mechanism of Genetic Disease
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What is Medical Genetics?

• Clinical Genetics
• the application to diagnosis and
• patient care

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What is Medical Genetics?
diagnosis
albinism
Sickle cell anemia
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What is Medical Genetics?
Imagining Diagnosis
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harelip
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What is Medical Genetics?
Molecular Diagnosis
incision enzyme
Gel electrophoresis
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What is Medical Genetics?
Prevention
phenylphruvic acid
PKU/PAH (Phenylalanine hydroxylase)
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What is Medical Genetics?
Therapy Consult
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Genetic disease

• A. What is genetic disorder?
• A genetic disorder is a disease that is
  caused by an abnormality in an individuals DNA.
  Abnormalities can range from a small mutation in
  a single gene to the addition or subtraction of
  an entire chromosome or set of chromosomes.

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Genetic disease

• B. Characteristics of genetic disorders
• 1. population distribution
• 2. mode of inheritance
• 3. congenital
• 4. familial
• 5. infectious

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Genetic disease

• B. Characteristics of genetic disorders
• 1.population distribution
• 2. mode of inheritance
• 3. congenital
• 4. familial
• 5. infectious

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x
hemophilia
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Genetic disease

• B. Characteristics of genetic disorders
• 1. population distribution
• 2. mode of inheritance
• 3. congenital
• 4. familial
• 5. infectious

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3 Pedigree of Genetic Disease
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Genetic disease

• B. Characteristics of genetic disorders
• 1. population distribution
• 2. mode of inheritance
• 3. congenital
• 4. familial
• 5. infectious

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Down syndrome
albinism
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Genetic disease

• B. Characteristics of genetic disorders
• 1. population distribution
• 2. mode of inheritance
• 3. congenital
• 4. familial
• 5. infectious

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Genetic disease

• B. Characteristics of genetic disorders
• 1. population distribution
• 2. mode of inheritance
• 3. congenital
• 4. familial
• 5. infectious

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Genetic disease

• human prion diseases
• genetic and infectious

Neuron Vacuolar degeneration
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• Creutzfeldt-Jakob disease

tribe
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Genetic disease

• C. Classification of Genetic Disorders
• 1. single-gene disorders
• 2. chromosome disorders
• 3. multifactorial disorders
• 4. somatic cell genetic disorders
• 5. mitochondrial disorders

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Genetic disease

• C. Classification of Genetic Disorders
• 1. single-gene disorders
• 2. chromosome disorders
• 3. multifactorial disorders
• 4. somatic cell genetic disorders
• 5. mitochondrial disorders

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Genetic disease

• Single-gene disorders result when a
  mutation causes the protein product of a single
  gene to be altered or missing.

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? ?????????????
?????? ?????? OMIM ?????
????????? familial hypercholesterolemia 143890 19p13.2
???????????? hemorrhagic telangiectasia 187300 9q34.1
????????? elliptocytosis 130500 1p36.2-p34
???????? porphyria, acute intermittent 176000 11q23.3
?????????? osteogenesis imperfecta, type I 166200 17q21.31-q22
?????? polycystic kidney disease, adult 173900 16p13.3-p13.12
?-?????????? alpha-thalassemias 141800 16pter-p13.3
??(?)?A1? brachydactyly, type A1 112500 2q35-q36
????????????? supravalvular aortic stenosis 185500 7q11.2
????????,????? Fechtner syndrome 153640 22q11.2
Noonan??? Noonan syndrome 1 163950 12q24.1
????? neurofibromatosis, type I 162200 17q11.2
?????? tuberous sclerosis 191100 16p13.3,9q34
??????????? adenomatous polyposis of the colon 175100 5q21-q22
Peutz-Jeghers??? Peutz-Jeghers syndrome 175200 19p13.3
Von Willebrand? Von Willebrand disease 193400 12p13.3
???????? dystrophia myotonica 1 160900 19q13.2-q13.3
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Genetic disease

• C. Classification of Genetic Disorders
• 1. single-gene disorders
• 2. chromosome disorders
• 3. multifactorial disorders
• 4. somatic cell genetic disorders
• 5. mitochondrial disorders

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• In chromosome disorders, entire chromosomes,
  or large segments of them, are missing,
  duplicated, or otherwise altered.

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Patau syndrome 

• Trisomy 13 -- the presence of an extra
  (third) chromosome 13 in all of the cells.

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Symptoms

• Physical characteristics
• Organ defects
• Mental retardation

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physical characteristics
small eyes
low-set ears
cleft lip,cleft palate
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physical characteristics
rocker foot
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Organ defects

• heart defects
• spinal defects

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• abnormal genitalia
• gastrointestinal hernias
• polycystic kidney disease

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mental retardation

• Incomplete brain development
• Low IQ

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• 99do not survive gestation and are spontaneously
  aborted
• 82-85 do not survive past 1 month of age, 85 do
  not survive past 1 year of age

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Diagnosis Treatment

• Diagnosis chromosome analysis
• NO TREATMENT

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Genetic disease

• C. Classification of Genetic Disorders
• 1. single-gene disorders
• 2. chromosome disorders
• 3. multifactorial disorders
• 4. somatic cell genetic disorders
• 5. mitochondrial disorders

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• Multiple genes are missing as a result of
  this deletion, and each may contribute to the
  symptoms of the disorder. One of the deleted
  genes known to be involved is TERT (telomerase
  reverse transcriptase). This gene is important
  during cell division because it helps to keep the
  tips of chromosomes (telomeres) in tact.

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Genetic disease

• Multifactorial disorders result from
  mutations in multiple genes, often coupled with
  environmental causes.

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Genetic disease

• C. Classification of Genetic Disorders
• 1. single-gene disorders
• 2. chromosome disorders
• 3. multifactorial disorders
• 4. somatic cell genetic disorders
• 5. mitochondrial disorders

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Genetic disease

• Somatic cell genetic diseases
• result from the altered genetic materials
  in somatic cells.

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Genetic disease

• C. Classification of Genetic Disorders
• 1. single-gene disorders
• 2. chromosome disorders
• 3. multifactorial disorders
• 4. somatic cell genetic disorders
• 5. mitochondrial disorders

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Genetic disease

• Mitochondrial genetic diseases
• Due to the mutation of mitochondrial DNA.

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??mtDNA???????
?? ???? ??
mt-3243 tRNALeu(UUR) MELAS?PEO?NIDDM/??
mt-3256 tRNALeu(UUR) PEO
mt-3271 tRNALeu(UUR) MELAS
mt-3303 tRNALeu(UUR) ???
mt-3260 tRNALeu(UUR) ???/??
mt-4269 tRNAIle ???
mt-5730 tRNAAsn ??(PEO)
mt-8344 tRNALys MERRF
mt-8356 tRNALys MERRF/MELAS
mt-15990 tRNAPro ??
mt-8993 A6 NARP/LEIGH
mt-11778 ND4 LHON
mt-4160 ND1 LHON
mt-3460 ND1 LHON
mt-7444 COX1 LHON
mt-14484 ND6 LHON
mt-15257 Cyt6 LHON
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• The End