Medical Genetics
01 医学遗传学绪论
introduction to medical Genetics
Medical Genetics
推荐网址
推荐课程：医学遗传学（国家级精品课程）
课程负责人：左伋
承担单位：复旦大学
网址,
http://vcampus.fudan.edu.cn/jpkc
Medical Genetics
? Introduction
? What is Medical Genetics?
? Genetic disease
? Role of Medical Genetics in
Medical Education,
Medical Genetics
Introduction
Medical Genetics
Introduction
Medical Genetics
Introduction
Medical Genetics
Introduction
Disease caused by (or
related to) environmental
stress,
Bird Flu (upper)
SARS (right)
Medical Genetics
Introduction
Disease caused by (or related to) genetic
factors,
Medical Genetics
Introduction
Duchenne muscular dystrophy
caused by a gene mutation
Medical Genetics
Introduction
diseases caused by the combined
action of gene and environment,
Medical Genetics
Introduction
Genetic Disorders, disorders caused
wholly or partly by genetic factors,
Medical Genetics
What is Medical Genetics?
human genetics
Medical Genetics
What is Medical Genetics?
human genetics,
the science of variation and
heredity in human beings,
Medical Genetics
Medical Genetics
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,
Medical Genetics
What is Medical Genetics?
Medical Genetics
Wilson’s disease
Medical Genetics
What is Medical Genetics?
Clinical Genetics
the application to diagnosis and
patient care
Medical Genetics What is Medical Genetics?
diagnosis
Medical Genetics
What is Medical Genetics?
diagnosis
Medical Genetics
What is Medical Genetics?
diagnosis
Medical Genetics
What is Medical Genetics?
prevention
Medical Genetics
What is Medical Genetics?
therapy
Medical Genetics
Genetic disease
A,What is genetic disorder?
A genetic disorder is a disease
that is caused by an abnormality in an
individual’s 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,
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1.population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Genetic disease
human prion diseases
genetic and infectious
Medical Genetics
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
Medical Genetics
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
Medical Genetics
Genetic disease
Single-gene disorders result
when a mutation causes the protein
product of a single gene to be
altered or missing,
Medical Genetics 表 一些常染色体显性遗传病举例
疾病中文名称 疾病英文名称 OMIM 染色体定位
家族性高胆固醇血症 familial hypercholesterolemia 143890 19p13.2
遗传性出血性毛细血管扩张 hemorrhagic telangiectasia 187300 9q34.1
遗传性球形红细胞症 elliptocytosis 130500 1p36.2-p34
急性间歇性卟淋症 porphyria,acute intermittent 176000 11q23.3
迟发性成骨发育不全症 osteogenesis imperfecta,type I 166200 17q21.31-q22
成年多囊肾病 polycystic kidney disease,adult 173900 16p13.3-
p13.12
?-珠蛋白生成障碍性贫血 alpha-thalassemias 141800 16pter-p13.3
短指（趾）症 A1型 brachydactyly,type A1 112500 2q35-q36
特发性肥大性主动脉瓣下狭窄 supravalvular aortic stenosis 185500 7q11.2
遗传性巨血小板病，肾炎和耳聋 Fechtner syndrome 153640 22q11.2
Noonan综合征 Noonan syndrome 1 163950 12q24.1
神经纤维瘤 neurofibromatosis,type I 162200 17q11.2
结节性脑硬化 tuberous sclerosis 191100 16p13.3,9q34
多发性家族性结肠息肉症 adenomatous polyposis of the
colon
175100 5q21-q22
Peutz-Jeghers综合征 Peutz-Jeghers syndrome 175200 19p13.3
Von Willebrand病 Von Willebrand disease 193400 12p13.3
肌强直性营养不良 dystrophia myotonica 1 160900 19q13.2-q13.3
Medical Genetics
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
Medical Genetics
In chromosome disorders,
entire chromosomes,or large
segments of them,are missing,
duplicated,or otherwise altered,
Medical Genetics
Cri-du-Chat syndrome is French
for "cry of the cat," referring to the
distinctive cry of children with this
disorder,The cry is caused by
abnormal larynx development,one of
the many symptoms associated with
this disorder,
Medical Genetics
Cri-du-
chat is caused
by a deletion
(the length of
which may vary)
on the short
arm of
chromosome 5,
Medical Genetics
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,
Medical Genetics
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
Medical Genetics
Genetic disease
Multifactorial disorders result
from mutations in multiple genes,
often coupled with environmental
causes,
Medical Genetics
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
Medical Genetics
Genetic disease
Somatic cell genetic diseases,
result from the altered genetic
materials in somatic cells,
Medical Genetics
Medical Genetics
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
Medical Genetics
Genetic disease
Mitochondrial genetic diseases,
Due to the mutation of
mitochondrial DNA,
Medical Genetics 一些 mtDNA突变相关的疾病
突变 相关基因 表型
nt-3243 tRNALeu(UUR) MELAS,PEO,NIDDM/耳聋
nt-3256 tRNALeu(UUR) PEO
nt-3271 tRNALeu(UUR) MELAS
nt-3303 tRNALeu(UUR) 心肌病
nt-3260 tRNALeu(UUR) 心肌病 /肌病
nt-4269 tRNAIle 心肌病
nt-5730 tRNAAsn 肌病 (PEO)
nt-8344 tRNALys MERRF
nt-8356 tRNALys MERRF/MELAS
nt-15990 tRNAPro 肌病
nt-8993 A6 NARP/LEIGH
nt-11778 ND4 LHON
nt-4160 ND1 LHON
nt-3460 ND1 LHON
nt-7444 COX1 LHON
nt-14484 ND6 LHON
nt-15257 Cyt6 LHON
Medical Genetics
Genetic disease
D,Practice in clinical medicine
1,How can a physician recognize
that a disorder is genetic?
2,Risk
3,The load of genetic disease
4,Ethical principles in medical
genetics
Medical Genetics
Genetic disease
E,Strategy of genetic disorder
research
1,single-gene disorder
2,chromosome disorder
3,multifactorial disorder
Medical Genetics
Role of Medical Genetics
in Medical Education
Medical Genetics
The End
01 医学遗传学绪论
introduction to medical Genetics
Medical Genetics
推荐网址
推荐课程：医学遗传学（国家级精品课程）
课程负责人：左伋
承担单位：复旦大学
网址,
http://vcampus.fudan.edu.cn/jpkc
Medical Genetics
? Introduction
? What is Medical Genetics?
? Genetic disease
? Role of Medical Genetics in
Medical Education,
Medical Genetics
Introduction
Medical Genetics
Introduction
Medical Genetics
Introduction
Medical Genetics
Introduction
Disease caused by (or
related to) environmental
stress,
Bird Flu (upper)
SARS (right)
Medical Genetics
Introduction
Disease caused by (or related to) genetic
factors,
Medical Genetics
Introduction
Duchenne muscular dystrophy
caused by a gene mutation
Medical Genetics
Introduction
diseases caused by the combined
action of gene and environment,
Medical Genetics
Introduction
Genetic Disorders, disorders caused
wholly or partly by genetic factors,
Medical Genetics
What is Medical Genetics?
human genetics
Medical Genetics
What is Medical Genetics?
human genetics,
the science of variation and
heredity in human beings,
Medical Genetics
Medical Genetics
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,
Medical Genetics
What is Medical Genetics?
Medical Genetics
Wilson’s disease
Medical Genetics
What is Medical Genetics?
Clinical Genetics
the application to diagnosis and
patient care
Medical Genetics What is Medical Genetics?
diagnosis
Medical Genetics
What is Medical Genetics?
diagnosis
Medical Genetics
What is Medical Genetics?
diagnosis
Medical Genetics
What is Medical Genetics?
prevention
Medical Genetics
What is Medical Genetics?
therapy
Medical Genetics
Genetic disease
A,What is genetic disorder?
A genetic disorder is a disease
that is caused by an abnormality in an
individual’s 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,
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1.population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Medical Genetics
Medical Genetics
Genetic disease
B,Characteristics of genetic
disorders
1,population distribution
2,mode of inheritance
3,congenital
4,familial
5,infectious
Medical Genetics
Genetic disease
human prion diseases
genetic and infectious
Medical Genetics
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
Medical Genetics
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
Medical Genetics
Genetic disease
Single-gene disorders result
when a mutation causes the protein
product of a single gene to be
altered or missing,
Medical Genetics 表 一些常染色体显性遗传病举例
疾病中文名称 疾病英文名称 OMIM 染色体定位
家族性高胆固醇血症 familial hypercholesterolemia 143890 19p13.2
遗传性出血性毛细血管扩张 hemorrhagic telangiectasia 187300 9q34.1
遗传性球形红细胞症 elliptocytosis 130500 1p36.2-p34
急性间歇性卟淋症 porphyria,acute intermittent 176000 11q23.3
迟发性成骨发育不全症 osteogenesis imperfecta,type I 166200 17q21.31-q22
成年多囊肾病 polycystic kidney disease,adult 173900 16p13.3-
p13.12
?-珠蛋白生成障碍性贫血 alpha-thalassemias 141800 16pter-p13.3
短指（趾）症 A1型 brachydactyly,type A1 112500 2q35-q36
特发性肥大性主动脉瓣下狭窄 supravalvular aortic stenosis 185500 7q11.2
遗传性巨血小板病，肾炎和耳聋 Fechtner syndrome 153640 22q11.2
Noonan综合征 Noonan syndrome 1 163950 12q24.1
神经纤维瘤 neurofibromatosis,type I 162200 17q11.2
结节性脑硬化 tuberous sclerosis 191100 16p13.3,9q34
多发性家族性结肠息肉症 adenomatous polyposis of the
colon
175100 5q21-q22
Peutz-Jeghers综合征 Peutz-Jeghers syndrome 175200 19p13.3
Von Willebrand病 Von Willebrand disease 193400 12p13.3
肌强直性营养不良 dystrophia myotonica 1 160900 19q13.2-q13.3
Medical Genetics
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
Medical Genetics
In chromosome disorders,
entire chromosomes,or large
segments of them,are missing,
duplicated,or otherwise altered,
Medical Genetics
Cri-du-Chat syndrome is French
for "cry of the cat," referring to the
distinctive cry of children with this
disorder,The cry is caused by
abnormal larynx development,one of
the many symptoms associated with
this disorder,
Medical Genetics
Cri-du-
chat is caused
by a deletion
(the length of
which may vary)
on the short
arm of
chromosome 5,
Medical Genetics
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,
Medical Genetics
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
Medical Genetics
Genetic disease
Multifactorial disorders result
from mutations in multiple genes,
often coupled with environmental
causes,
Medical Genetics
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
Medical Genetics
Genetic disease
Somatic cell genetic diseases,
result from the altered genetic
materials in somatic cells,
Medical Genetics
Medical Genetics
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
Medical Genetics
Genetic disease
Mitochondrial genetic diseases,
Due to the mutation of
mitochondrial DNA,
Medical Genetics 一些 mtDNA突变相关的疾病
突变 相关基因 表型
nt-3243 tRNALeu(UUR) MELAS,PEO,NIDDM/耳聋
nt-3256 tRNALeu(UUR) PEO
nt-3271 tRNALeu(UUR) MELAS
nt-3303 tRNALeu(UUR) 心肌病
nt-3260 tRNALeu(UUR) 心肌病 /肌病
nt-4269 tRNAIle 心肌病
nt-5730 tRNAAsn 肌病 (PEO)
nt-8344 tRNALys MERRF
nt-8356 tRNALys MERRF/MELAS
nt-15990 tRNAPro 肌病
nt-8993 A6 NARP/LEIGH
nt-11778 ND4 LHON
nt-4160 ND1 LHON
nt-3460 ND1 LHON
nt-7444 COX1 LHON
nt-14484 ND6 LHON
nt-15257 Cyt6 LHON
Medical Genetics
Genetic disease
D,Practice in clinical medicine
1,How can a physician recognize
that a disorder is genetic?
2,Risk
3,The load of genetic disease
4,Ethical principles in medical
genetics
Medical Genetics
Genetic disease
E,Strategy of genetic disorder
research
1,single-gene disorder
2,chromosome disorder
3,multifactorial disorder
Medical Genetics
Role of Medical Genetics
in Medical Education
Medical Genetics
The End
