Study sets matching "hereditary diseases"

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Study sets matching "hereditary diseases"

Hereditary diseases
Genes
Genes are based as pairs
Genotype
Phenotype
The basic unit of heredity
Homozygous and heterozygous
The genetic make up
The characteristics that are seen
Genes
The basic unit of heredity
Genes are based as pairs
Homozygous and heterozygous
25 terms
Hereditary and Hereditary Diseases
Karyotype
Autosomes
Chromosome
Amniocentesis
A picture of a person's chromosomes
Any chromosome that is not a sex chromosome
A threadlike structure of nucleic acids and protein found in…
Obtaining a sample of amniotic fluid with loose cells from a…
Karyotype
A picture of a person's chromosomes
Autosomes
Any chromosome that is not a sex chromosome
31 terms
Hereditary and Hereditary Diseases I
What makes up the genetic code for DNA?
Human genome is made up of
Female sex chromosome
Male sex chromosome
- Adenine... - Guanine... - Cytosine... - Thymine
- 46 chromosomes (23 chromosome pairs)... - 22 pairs which are a…
XX
XY
What makes up the genetic code for DNA?
- Adenine... - Guanine... - Cytosine... - Thymine
Human genome is made up of
- 46 chromosomes (23 chromosome pairs)... - 22 pairs which are a…
Hereditary diseases
Phenylketonuria
Achonodroplasia
Polydactyly
Congenital Pylorics Stenosis
A hereditary congenital disease in which the newborn child is…
Defective cartilage formation in the fetus as a result the lo…
a congenital anomaly characterized by the presence of extra f…
A narrowing of the pyloric sphincter at the exit of the stoma…
Phenylketonuria
A hereditary congenital disease in which the newborn child is…
Achonodroplasia
Defective cartilage formation in the fetus as a result the lo…
8 terms
Hereditary Diseases
Huntington
Muscular Dystrophy
Down Syndrome
Sickle Cell Anemia
abnormality of brain by age 50; affect individuals are "Aa";…
disease of muscle breakdown; sex-linked and recessive (XaY);…
abnormality of incorrect chromosome count--extra chromosome #…
disease of abnormal hemoglobin; blood clotting occurs any tim…
Huntington
abnormality of brain by age 50; affect individuals are "Aa";…
Muscular Dystrophy
disease of muscle breakdown; sex-linked and recessive (XaY);…
Hereditary Diseases
Sickle Cell Anemia
PKU
Tay Sachs
Huntington Disease
a disease caused by the inheritance of 2 autosomal and codomi…
disease of phenylalanine metabolism, can lead to severe menta…
disease of lipid metabolism in brain; parents can be tested f…
the gene kills its victims in later age, at 40 or 50 years; s…
Sickle Cell Anemia
a disease caused by the inheritance of 2 autosomal and codomi…
PKU
disease of phenylalanine metabolism, can lead to severe menta…
hereditary diseases
DNA - Deoxyribonucleic Acid
Chromosomes
Karyotype
Alleles
Blueprint for protein synthesis in cell
• units of DNA... • Each human has 46 (23 pairs)... • Half of each…
• The chromosomal... composition of the... nucleus
pair of genes inherited for a particular trait - (e.g.: eye c…
DNA - Deoxyribonucleic Acid
Blueprint for protein synthesis in cell
Chromosomes
• units of DNA... • Each human has 46 (23 pairs)... • Half of each…
30 terms
Hereditary Diseases
Sickle Cell Anemia
Sickle Cell Anemia symptoms
Cystic Fibrosis
Cystic Fibrosis symptoms
A disease in which the red blood cells are mutated so they ca…
Severe pain, damage to brain, heart, liver, lungs, kidney, an…
Mutation that causes thick, sticky mucus throughout various b…
Coughing, wheezing, lung infections, inflamed nasal passages,…
Sickle Cell Anemia
A disease in which the red blood cells are mutated so they ca…
Sickle Cell Anemia symptoms
Severe pain, damage to brain, heart, liver, lungs, kidney, an…
Hereditary Diseases
Incomplete Dominance
Co-Dominance
Multiple Alleles
Pleiotropy
F1 Hybrids have a phenotype somewhere in between the phenotyp…
2 Alleles both affect phenotype in separate distinguishable w…
Having more than 2 possible phenotypes. EX: Blood Type... ... 4…
When a gene has multiple phenotypic effects. EX: Multiple sym…
Incomplete Dominance
F1 Hybrids have a phenotype somewhere in between the phenotyp…
Co-Dominance
2 Alleles both affect phenotype in separate distinguishable w…
Hereditary diseases
gene
Mendelian inheritance pattern
post-translational modifications of pr…
mitosis
stretch of DNA that ultimately codes for a protein responsibl…
defective product of 1 gene at 1 locus
glycosylation, fatty acid modification, carboxylation
allows a somatic cell to pass on a complete set of chromosome…
gene
stretch of DNA that ultimately codes for a protein responsibl…
Mendelian inheritance pattern
defective product of 1 gene at 1 locus
14 terms
Hereditary and hereditary diseases
Any characteristic that can be observe…
A persons genetic makeup
Having more than five fingers on the h…
Presetn at the time of birth
phenotype
genotype
polydactyl
congenital
Any characteristic that can be observe…
phenotype
A persons genetic makeup
genotype
49 terms
Hereditary Diseases
AR, AD, or sex-linked patterns are obs…
____usually display a recessive phenot…
Mutations include gene expression and…
Dominant negative patterns are observe…
single-gene disorders
Loss of function mutations
Gain of function mutations
True
AR, AD, or sex-linked patterns are obs…
single-gene disorders
____usually display a recessive phenot…
Loss of function mutations
Hereditary Diseases
What is an ultra sound examination use…
Detection of major structural abnormal…
What is an example of a structural abn…
What is hydrocephalus?
Detection of major structural abnormalities
Major structural abnormalities of the nervous system... Hydrocep…
Spina bifida
Over production of cerebral spinal fluid - causes build up in…
What is an ultra sound examination use…
Detection of major structural abnormalities
Detection of major structural abnormal…
Major structural abnormalities of the nervous system... Hydrocep…
18 terms
Hereditary Diseases
What does Huntington's disease do?
Is Huntington's disease dominate or re…
What is brachydactylia?
Is brachydactylia dominant or recessive?
Deterioration of the nervous system during middle age
Dominant
Very short fingers
Dominant
What does Huntington's disease do?
Deterioration of the nervous system during middle age
Is Huntington's disease dominate or re…
Dominant
Hereditary Disease
Prenatal diagnosis
Ultrasound
Amniocentesis
Chronic Villus Sampling
Ultrasound... Amniocentesis... Chronic Villus Sampling
Structural abnormalities... hydrocephalus... Obstruction of urinary…
Between 14th and 18th week... Fluid extracted from amniotic sac:…
Fetal cells obtained for evaluation: frond like structure tha…
Prenatal diagnosis
Ultrasound... Amniocentesis... Chronic Villus Sampling
Ultrasound
Structural abnormalities... hydrocephalus... Obstruction of urinary…
47 terms
Hereditary Diseases
albinism
cystic fibrosis
haemophilia
Marfan syndrome
Albinismus
Mukoviszidose
Blutkrankheit
Marfansyndrom
albinism
Albinismus
cystic fibrosis
Mukoviszidose
Hereditary Disease
Sickle Cell Anemia
Huntington's Disease
Hemophilia
Cystic Fibrosis
-What:... SCD is a serious disorder in which the body makes sick…
What: its a disease that breaks down your cells of the brain.…
-What? Blood disorders, that blood doesn't work properly.... -Ho…
What? its a disease that damages the lungs and the digestive…
Sickle Cell Anemia
-What:... SCD is a serious disorder in which the body makes sick…
Huntington's Disease
What: its a disease that breaks down your cells of the brain.…
Hereditary Disease
Klinefelter's
Kallman's
Turner's
Prader-Willi
Tall... Small testes/sparse hair, gynaecomastia, infertility... Hig…
Short... Anosmia, osteopenia... low FSH/LH and low testosterone... 46X…
Short... Primary amennorhoea, coarctation, bicuspid aortic valve…
Paternal imprinting... Hyperphagia, morbid obesity, intellectual…
Klinefelter's
Tall... Small testes/sparse hair, gynaecomastia, infertility... Hig…
Kallman's
Short... Anosmia, osteopenia... low FSH/LH and low testosterone... 46X…
Hereditary and Disease
What does DNA stand for?
What is DNA?
What are Chromosomes?
DNA that replicates itself and code fo…
Deoxyribonucleic acid
the blue print for directing all cell activities and especial…
DNA assembled, within the nucleus of cells, into stranded units
RNA ( Ribonucleic acid)
What does DNA stand for?
Deoxyribonucleic acid
What is DNA?
the blue print for directing all cell activities and especial…
Hereditary Diseases and Congenital Diseases
Hereditary disease
mutations
Autosomal dominant hereditary diseases
Achondroplasia
a disease or disorder inherited genetically
permanent change in genetic material
1. Achondroplasia... 2. Congenital polycystic kidney disease
type of dwarfism in which limbs are disproportionately short
Hereditary disease
a disease or disorder inherited genetically
mutations
permanent change in genetic material
HP 320 Hereditary and Hereditary Diseases
Autosomes
Genotype
Carrier
Meiosis
the 22 pairs of chromosomes that are not involved in sex dete…
genetic make up
A person who shows no evidence of a trait but has a recessive…
Special process of cell division by which the reproductive ce…
Autosomes
the 22 pairs of chromosomes that are not involved in sex dete…
Genotype
genetic make up
22 terms
Congenital and hereditary diseases
congenital
hereditary
osteogenesis imperfecta (OI)
OI RP
present at birth, may be known prior to birth
transmitted genetically by one or both parents
mutations of structural genes, bones easily fractured, congen…
radiolucent bones, healing fractures demonstrate profuse call…
congenital
present at birth, may be known prior to birth
hereditary
transmitted genetically by one or both parents
11 terms
Heredity and Hereditary Diseases
b. heterozygous
b. pedigree
c. gene therapy
a. karyotype
Carries for recessive disorders are... a. homozygous recessive... b…
One way for a genetic counselor to deduce inheritance pattern…
The insertion of genetic material into human cells for treatm…
A display of an individual's chromosomes arranged by size, sh…
b. heterozygous
Carries for recessive disorders are... a. homozygous recessive... b…
b. pedigree
One way for a genetic counselor to deduce inheritance pattern…
98 terms
Hereditary Retinal and Macular Disease
Symptoms of RP
Signs of RP
What % of RP patients have no family h…
Which inheritance pattern of RP produc…
--Night blindness... --Peripheral vision loss (ring scotoma)... --A…
--Arteriolar attenuation... --Bone spicule pigmentation... --Pale,…
50%
Autosomal recessive
Symptoms of RP
--Night blindness... --Peripheral vision loss (ring scotoma)... --A…
Signs of RP
--Arteriolar attenuation... --Bone spicule pigmentation... --Pale,…
20 terms
CNS congenital and hereditary diseases
Hydrocephalus
3 types of abnormalities: hydrocephalus
hydrocephalus imaging modalities
hydrocephalus appearance
CSF abnormality
noncommunicating, communicating, excessive accumulation
CT and MRI show ventricles and CDF flow, sonography of ventri…
enlarged ventricles, increasing brain pressure
Hydrocephalus
CSF abnormality
3 types of abnormalities: hydrocephalus
noncommunicating, communicating, excessive accumulation
70 terms
systemic/hereditary/vascular diseases
Diabetes M.... Clincal Features
Diabetes M.... Pathogenesis
Diabetes M.... Biopsy Sample?
Diabetes M.... Gross Pathology? What do…
- the most common early clinical manifestation of DN is prote…
Essentially there is a disturbance of the rates of ECM format…
No! Only when...... Early onset of renal disease;... Development…
Diabetic kidneys are usually larger than normal, especially i…
Diabetes M.... Clincal Features
- the most common early clinical manifestation of DN is prote…
Diabetes M.... Pathogenesis
Essentially there is a disturbance of the rates of ECM format…
Chapter 5 Hereditary Diseases
Cystic Fibrosis
Hemochromatosis
Galactosemia
Sickle cell anemia
affecting glands that secrete mucus,... leading to recurrent, se…
Iron Storage Disorder
Error of sugar metabolism that can lead to impaired mental de…
Disorder in which abnormal hemoglobin causes deformed red blo…
Cystic Fibrosis
affecting glands that secrete mucus,... leading to recurrent, se…
Hemochromatosis
Iron Storage Disorder
Cardiovascular Disease & Hereditary Disease
arteries
capillaries
cardiovascular disease
coronary arteries
carry blood away from a heart
carry blood to bodily tissues
damage to heart/heart's arteries
supply blood to the heart
arteries
carry blood away from a heart
capillaries
carry blood to bodily tissues
20 terms
Hereditary Diseases (test 1)
Muscular Dystrophy
Neural-tube defects
Phenylketonuria
Pyloric Stenosis
Weakening of muscles, prognosis not good
parts of the brain missing
Abnormal digestion of protein
Overgrowth of muscle in intestine
Muscular Dystrophy
Weakening of muscles, prognosis not good
Neural-tube defects
parts of the brain missing
Hereditary Diseases Test
Sickle Cell
PKU
Huntington's Disease
Cystic Fibrosis
occasional sickle shaped RBC→ stuck in capillaries... abnormal h…
can not break down phenylalanine... builds up in the brain upon…
mental/nervous system deterioration ... uncontrollable movement…
heavy mucus buildup in trachea ... due to a mutation for the CFT…
Sickle Cell
occasional sickle shaped RBC→ stuck in capillaries... abnormal h…
PKU
can not break down phenylalanine... builds up in the brain upon…
Hereditary Diseases QUIZ 2
Ultrasound examination
Amniocentesis
Chorionic Villus Sampling
Genetically transmitted diseases
- Detection of the major structural abnormalities... - major st…
- Usually performed between 14th and 18th week of pregnancy... -…
- Fetal cells obtained for evaluation ... - Small catheter inser…
- Abnormalities of individual genes on the chromosomes... - Chro…
Ultrasound examination
- Detection of the major structural abnormalities... - major st…
Amniocentesis
- Usually performed between 14th and 18th week of pregnancy... -…
Hereditary Coagulation diseases
Hemophilia A
Hemophilia B
Hemophilia C
von Willebrand factor
GENERAL: Most common, Factor VIII deficiency; X-linked recess…
GENERAL: Factor IX deficiency
GENERAL: Factor XI deficiency... CLINICAL:... -Bleeding tendency n…
FUNCTIONS:... -von Willebrand factor links platelets to the sube…
Hemophilia A
GENERAL: Most common, Factor VIII deficiency; X-linked recess…
Hemophilia B
GENERAL: Factor IX deficiency
18 terms
Hereditary diseases Biology
Trisomy
Turner Syndrome
Karyotype
Down Syndrome
Condition of an extra chromosome
Sex (X) chromosome is missing or partially missing
Map of homologous chromosomes lined up
Extra copy chromosome 21
Trisomy
Condition of an extra chromosome
Turner Syndrome
Sex (X) chromosome is missing or partially missing
37 terms
Congenital and Hereditary Diseases
Causes of congenital malformations
chromosome
total number of chromosomes
karyotype
chromosomal abnormalities... intrauterine injury to embryo of fe…
genetic information carried in genes on strands of DNA
46.. 22 pairs. 1 pair of sex chromosomes. women XX, men XY
representation of a persons set of chromosomes
Causes of congenital malformations
chromosomal abnormalities... intrauterine injury to embryo of fe…
chromosome
genetic information carried in genes on strands of DNA
Motor Neuron Diseases - Hereditary
Motor Neuron Disease 1
Motor Neuron Disease 2
Motor Neuron Disease 3
Motor Neuron Disease 4
ALS -Onset - Adult Only; poor mm tone not seen; Absent MSR no…
Progressive bulbar palsy, also called progressive bulbar atro…
Pseudobulbar palsy,which shares many symptoms of progressive…
Spinal muscular atrophy(SMA) Onset - Infant to Adult; Sensory…
Motor Neuron Disease 1
ALS -Onset - Adult Only; poor mm tone not seen; Absent MSR no…
Motor Neuron Disease 2
Progressive bulbar palsy, also called progressive bulbar atro…
12 terms
Biology Inheritance: Hereditary Diseases
muscular dystrophy
down syndrome
down syndrome
PKU
muscle breakdown by age 15
extra chromosome
caused by nondisjunction
defective phenylalanine metabolism
muscular dystrophy
muscle breakdown by age 15
down syndrome
extra chromosome
Understanding Hereditary Diseases 2015
Hereditary Disease
Genes
Genetic Counseling
Human Genome Project
Caused by abnormal chromosomes or by defective genes inherite…
segments of dna, located on chromosomes, that code for a spec…
process of informing a person or couple about their genetic m…
Research effort to determine the locations of all human genes…
Hereditary Disease
Caused by abnormal chromosomes or by defective genes inherite…
Genes
segments of dna, located on chromosomes, that code for a spec…
Hereditary/Congenital Diseases & Conditions
Polydactyly
Patent Ductus Arteriosus
Hirschsprung's Disease
Klinefelter's Syndrome
A congenital anomaly characterized by the presence of extra f…
Failure of the ductus arteriosus to close after birth, allowi…
newborn who fails to pass meconium and has bilious vomiting
a chromosomal trisomy in which males have an extra X chromoso…
Polydactyly
A congenital anomaly characterized by the presence of extra f…
Patent Ductus Arteriosus
Failure of the ductus arteriosus to close after birth, allowi…
human hereditary diseases
affects the sexual development of male…
affects the persons ability to think,…
causes dementia and loss of brain func…
affects the sexual development of fema…
klinefelter syndrome (chromosomal abnormality)
Huntington's Disease (autosomal recessive)
Alzheimers Disease (autosomal dominant)
Turner Disease (chromosomal abnormality)
affects the sexual development of male…
klinefelter syndrome (chromosomal abnormality)
affects the persons ability to think,…
Huntington's Disease (autosomal recessive)
family and hereditary diseases
el nieto
el padrino
la nieta
la madrina
grandson
godfather
granddaughter
godmother
el nieto
grandson
el padrino
godfather
9 terms
Bio descriptions of hereditary diseases
PKU
Tay-Sachs
Huntington' Disease
Cystic Fibrosis
inability to break down phenylalanine leading to severe menta…
brain degeneration and early death; aa
dominant disease causing brain deterioration at around age 35…
inappropriate mucus that clots and causes disease-prone lungs…
PKU
inability to break down phenylalanine leading to severe menta…
Tay-Sachs
brain degeneration and early death; aa
10 terms
Hereditary Glycogen Storage Diseases
Glucose-6-phosphatase (Liver)
alpha-1,4-Glucosidase (All lysosomes)
Amylo-1,6-glucosidase-debranching enzy…
Amylo-(1,4--1,6)-transglycosylase-bran…
von Gierke's disease Normal
Pompe's disease Normal
Cori's disease Outer chains missing very short
Andersen's disease Very long unbranched chains
Glucose-6-phosphatase (Liver)
von Gierke's disease Normal
alpha-1,4-Glucosidase (All lysosomes)
Pompe's disease Normal
Congenital/ Hereditary Diseases
Vertebral Anomalies
Transverse Vertebra
Spina Bifida
Occulta
Lumbar and Cervical, L1 or C7 has ribs may be unilateral or b…
Has characteristics of vertebrae on both sides of a major div…
Congenital. A posterior defect of the spinal canal, resulting…
Minor form of Spina Bifida. Splitting of the bony neural cana…
Vertebral Anomalies
Lumbar and Cervical, L1 or C7 has ribs may be unilateral or b…
Transverse Vertebra
Has characteristics of vertebrae on both sides of a major div…
9 terms
Hereditary CT Diseases
Mucopolysaccharidoses (MPS)
Hurler and Scheie Syndromes (MPS I H/S)
Hunter Syndrome (MPS II)
Sanfilippo Syndrome (MPS III)
Lysosomal storage disease; failure to breakdown mucopolysacch…
Lysosomal alpha-L-iduronidase deficiency... Most severe type of…
Iduronate-2-sulfatase (I2S) deficiency... X-linked... Early onset s…
Heparan sulfate breakdown affected... 4 types, all with AR inher…
Mucopolysaccharidoses (MPS)
Lysosomal storage disease; failure to breakdown mucopolysacch…
Hurler and Scheie Syndromes (MPS I H/S)
Lysosomal alpha-L-iduronidase deficiency... Most severe type of…
46 terms
Congenital and Hereditary Diseases
Congenital
Factors Inducing Congenital
Chromosomal Abnormalities
Nondisjunction
Present at birth ... About 2-3% of infants
Malformations ... Chromosomal abnormalities ... Abnormalities of in…
May result from failure of homologous chromosomes in germ cel…
Occasionally homologous chromosomes in germ cells fail to sep…
Congenital
Present at birth ... About 2-3% of infants
Factors Inducing Congenital
Malformations ... Chromosomal abnormalities ... Abnormalities of in…
Biology - Hereditary Diseases/Disorders
sickle-cell anemia
cystic fibrosis
Huntington's disease
Hemophilia
single-gene autosomal recessive
single-gene autosomal recessive
autosomal dominant mutation corresponding to a repeated seque…
a recessive X chromosome-linked (usually in males)... People wit…
sickle-cell anemia
single-gene autosomal recessive
cystic fibrosis
single-gene autosomal recessive
65 terms
Systemic, vascular, & Hereditary diseases
features of diabetic nephropathy (2)
Pathogenesis of diabetic nephropathy (2)
When do you need a renal biopsy with d…
how do kidneys with diabetic nephropat…
1. progressive proteinuria starting with microalbuminuria... 2.…
1. hyperglycemia leads to advanced glycation end products (AG…
1. early onset proteinuria... 2. lack of any other diabetic chan…
large due to excess ECM
features of diabetic nephropathy (2)
1. progressive proteinuria starting with microalbuminuria... 2.…
Pathogenesis of diabetic nephropathy (2)
1. hyperglycemia leads to advanced glycation end products (AG…
22 terms
Hereditary diseases of bone
achondroplasia
cartilage
yes
marfan's syndrome
Most common form of Dwarfism & GROWTH PLATES
Achondroplasia is a lack of _______ growth
Do Achondroplasia patients have a normal life span?
Connective tissue disorder involving the : Skeleton; Lens of…
achondroplasia
Most common form of Dwarfism & GROWTH PLATES
cartilage
Achondroplasia is a lack of _______ growth
9 terms
Hereditary Diseases/Inflammation/Infection
hereditary diseases
monogenic disorders
autosomal dominant
autosomal recessive
are the result of a persons genetic makeup, do not always app…
caused by a mutation in a single gene
only one abnormal gene from a parent is needed for a disease…
there must be two copies (both parents) of the abnormal gene…
hereditary diseases
are the result of a persons genetic makeup, do not always app…
monogenic disorders
caused by a mutation in a single gene
10 terms
Hereditary RBC diseases
Phosphofructokinase deficiency in dogs
Effects of PFK deficiency
Clinical findings of PFK
Pyruvate kinase
-regulatory enzyme of EMP... -autosomal recessive trait... --> engl…
-ATP and 2,3 DPG deficient... -reduced blood lactate... -increased…
-often asymptomatic... -persistent compensated hemolytic anemia…
-needed for generation of ATP... -autosomal recessive trait: Bas…
Phosphofructokinase deficiency in dogs
-regulatory enzyme of EMP... -autosomal recessive trait... --> engl…
Effects of PFK deficiency
-ATP and 2,3 DPG deficient... -reduced blood lactate... -increased…
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