Genetics and Embryo S1 U2

Traits in which variation is thought to be caused by the combined effects of multiple genes

environmental factors are also believed to cause variation in the trait as well as the underlying genetics

The loci underlying variation in a quantitative trait such as height

For multifactorial diseases that are either present or absent, a ______________ must be crossed before the disease is expressed.

risks based on direct observation of data

how do you estimate empirical risks, what is used most often for multifactoral diseases

multifactoral inheritence: the reccurent risk is (lower/higher) if more than one family member is affected

multifactoral inheritance: If the expression of the disease in the proband is more severe, the recurrence risk is (higher/lower)

multifactoral inheritance: The recurrence risk is _____ if the proband is of the less commonly affected sex

multifactoral inheritance: If the prevalence of the disease in a population is f (which varies between zero and one), the risk for offspring and siblings of probands is approximately _______

originate when the developing embryo divides to form two separate but genetically identical embryos.

the result of a double ovulation followed by the fertilization of each egg by a different sperm

If both members of a twin pair share a trait (e.g., cleft lip), they are said to be....

if both members of a twin pair dont share a trait they atre said to be

the percentage of population variation in a trait that is due to genes (statistically, it is the proportion of the total variance of a trait that is caused by genes).

If a sufficiently large ________ score (see Chapter 8) is obtained with a polymorphism, it is assumed that the region around this polymorphism might contain a disease-causing gene.

multifactoral inheritance: Disease families are collected, a single-gene mode of inheritance is assumed, and linkage analysis is undertaken with a large series of marker polymorphisms that span the genome (this is termed a _____________)

DNA variants associated with variation in mRNA expression of a gene are termed

heteroygosity mutation in the LDL receptor gene roughly doubles LDL cholesterol levels and is seen in approximately 1 in 500 persons. (This condition, known as.....

fx of Apo B-100 (on LDL)

what does a mutation on the APOB gene cause

describes the characteristically elongated QT interval in the electrocardiogram of affected individuals, indicative of delayed cardiac repolarization.

what is the cause of long QT syndrome

autosomal dominant form of long QT sydrome that can be caused by a loss of function mutation in genes that encode potassium channels

autosomal recessive forms of LQT syndrome that are less cpommon and associated with longer QT interval and hjigher incidence of suffen cardiac death and sensorineural deafness (x2)

what is the mutation in Jervell and Lange-Nielsen syndrome

distinctive cholesterol deposits seen oin the skin of people with familial hypercholesterolemia

what are class 1 LDLR mutations

what are class II LDLR mytations

what are class III LDLr mutations?

what is a class IV LDLR mutation

what are class V LDLR mutations

familial hypercholesterolemia LDLR mutation causes

familial hypercholesterolemia mutation apolipoprotein B results in

Tangier disease: ATP binding cassette 1 (ABC1) mutation causes

familial dialated cardiomyopathy: TNNT2 mutation causes

familial dialated cardiomyopathy titin (TTN) mutation causes

familial dialated cardiomyopathy: MYH7 mutation causes

familial dialated cardiomyopathy: SGCB mutation causes

familial dialated cardiomyopathy: SGCD myutation causes

familial dialated cardiomyopathy: dystrophin mutation causes

familial hypertrophic cardiomyopathy: MYH7 mutation causes

familial hypertrophic cardiomyopathy TNNT2 mutation causes r

long qt syndrome LQT1 and KCNQ1 mutations cause

long qt syndrome LQT2 and KCNH2 mutation cause

long qt syndrome LQT3 and SCN5A mutation cause

long QT syndrome: Ankyrin B anchoring protein (LQT4, ANK2) mutations cause

long qt syndrome: Cardiac potassium channel β subunit (LQT5, KCNE1) and Cardiac potassium channel subunit (LQT6, KCNE2) cause

liddle syndrome: Renal epithelial sodium channel subunits (SCNN1B, SCNN1G) mutation causes

gordon syndrome: WNK1 or WNK4 kinase genes mutations cause

Glucocorticoid-remediable aldosteronism: Fusion of genes that encode aldosterone synthase and steroid 11β-hydroxylase mutation causes

Syndrome of apparent mineralocorticoid excess: 11 β-Hydroxysteroid dehydrogenase (11β-HSD2) mutation causes

diabetes MODY1: Hepatocyte nuclear factor-4α (HNF4A) mutation causes

diabetes MODY2: GCK mutation leads to

diabetes MODY3 Hepatocyte nuclear factor-1α (HNF1α) mutation cayuses

diabetes MODY4: nsulin promoter factor-1 (IPF1) mutation causes

diabetes MODY 5: Hepatocyte nuclear factor-1β (HNF1β) mutation

Germline mutations in the ____(x2) genes can cause Li–Fraumeni syndrome, which also predisposes to breast cancer.

Cowden disease, a rare autosomal dominant condition that includes multiple hamartomas and breast cancer, is caused by mutations in the

familial colorectal cancer can be the result of mutations in the ______- tumor suppressor gene or in one of several DNA mismatch-repair genes (Lynch syndrome).

characterized by T-cell infiltration of the pancreas and destruction of the insulin-producing beta cells, usually manifests before 40 years of age

type 1 diabetes: estimated that the HLA loci account for about 40% to 50% of the genetic susceptibility to type 1 diabetes. 95% of people have one of these alleles

where is the insulin gene located

most significant gene identiied to contribute to type II diabetes risj

which accounts for 1% to 5% of all diabetes cases, typically occurs before 25 years of age and follows an autosomal dominant mode of inheritance. In contrast to type 2 diabetes, it is not associated with obesity.

alcoholism characterized by a later age of onset (after 25 years of age), occurrence in both males and females, and greater psychological dependency on alcohol.
-more likely to be introverted, solitary drinkers. This form of alcoholism is less likely to cluster in families (

seen predominantly in males, typically occurs before 25 years of age, and tends to involve persons who are extroverted and thrill-seeking.
-clusters more strongly in families

this allele makes alcohol unplesant

refers to earlier age-of-onset of some genetic diseases in more recent generations of families.

refers to the fact that some genes are expressed only on paternally transmitted chromosomes and others are expressed only on maternally transmitted chromosomes

states that one X chromosome in each cell is randomly inactivated early in the embryonic development of females. This ensures that females, who have two copies of the X chromosome, will produce X-linked gene products in quantities roughly similar to those produced in males (dosage compensation).

what eidence supports the lyon hypothesis?

what region is inactivation initiated in X chromosomes

this gene is located in the X inactivaton center and required for x inactivation
-encodes a lncRNA product that coats the inactive X chromosome.

Hemophillia A is caused by mutations in the gene that encode _________

Fibrin formation is affected, resulting in prolonged and often severe bleeding from wounds and hemorrhages in the joints and muscles (Fig. 5.3). Bruising is often seen. Hemarthroses (bleeding into the joints) are common in the ankles, knees, hips, and elbows.

how do you treat hemophillia A

these mutations usually lead to severe heophillia A

these mutations usually lead to less severe hemophilia A

where do many hemophilia A mutations take place?

what is hemophilia B a deficiency inc

defined as a progressive weakness and loss of muscle, exists in dozens of different forms.

parents begin to notice unusual clumsiness and muscle weakness. Pseudohypertrophy of the calves, the result of infiltration of muscle by fat and connective tissue, is often seen early in the course of the disease. All skeletal muscle degenerates eventually, and most patients with DMD are confined to a wheelchair by 11 years of age. The heart and respiratory musculature become impaired, and death usually results from respiratory or cardiac failure.

when muscle cells die in muscular dystrophy, this leaks into the blood stream, leading to levels evelated at least 20 times above the upper limot of the normal range

gene covers approximately 2.4 Mb of DNA, making it the largest gene known in the human. It contains 79 exons that produce a 14-kb mRNA transcript.

what does the amino terminus of the Dystrophin bind to

what does the carboxyl terminus of dystrophin bind to

dystrophin fx

Although dystrophin is __________ in almost all DMD patients, it is usually present in reduced quantity (or as a shortened form of the protein) in ________ patients.

unable to perceive one of the primary colors, usually red or green.

inability to perceive green

inability to perceive red

abilkity to perceive only one color

an autosomal recessive condition in which all visual function is carried out by rod cells.

an X-linked recessive condition in which both the red and green cone cells are absent.

where is the human rhodopsin gene?

where is the human gene for blue sensitive opsin

where are the genes for red and green opsins

what gene is responsible for juvenile retinoschisis

Progressive visual impairment caused by splitting of the nerve fiber layer of the retina; begins in the first or second decade of life; impairment typically 20/60 to 20/120

Madelung deformity of the radius and ulna; mesomelia (shortening of the forearms and lower legs); short stature

genetic defect Leri–Weill dyschondrosteosis

Mental retardation; genital anomalies; and α-thalassemia without abnormalities of the α-globin gene complex

Diminished sweating and heat intolerance; sparse and light-colored hair, eyelashes, and eyebrows; abnormal and/or missing teeth; recurrent upper airway infections

Hypohidrotic ectodermal hypoplasia genetics

vitamin de resistant rickets genetics

Hypophosphatemia due to reduced renal phosphate reabsorption; short stature; bowed legs; poor teeth formation

Aarskog–Scott syndrome (faciogenital dysplasia) GENETICS

Short stature; hypertelorism; genital anomalies

Cleft palate with or without ankyloglossia (tongue tie)

genetics Cleft palate with ankyloglossia

Defect of myelination; typically manifests in infancy or early childhood; characterized by nystagmus, hypotonia, spasticity, early death

genetics Pelizaeus–Merzbacher disease

Nephrogenic diabetes insipidus genetics

Impaired response to antidiuretic hormone that leads to inability to concentrate urine, polydipsia (excessive thirst), polyuria (excessive urine production)

Skeletal dysplasia ranging from mild to lethal; males more severely affected than females

genetics Otopalatodigital spectrum disorders

an individual who is heterozygous for a genetic trait but displays physical symptoms of the condition, which is usually recessive

About 95% of classic Rett syndrome cases are caused by mutations in the _____ gene, and most of these mutations are de novo events that occur in the paternal germline

Organ systems with large ATP requirements and high thresholds tend to be the ones most seriously affected by ________ diseases

characterized by rapid loss of vision in the central visual field as a result of optic nerve death. Vision loss typically begins in the third decade of life and is usually irreversible.

what causes ;leber hereditary optic neuropathy

a disorder characterized by epilepsy, dementia, ataxia (uncoordinated muscle movement), and myopathy (muscle disease).

What mutation causes merrf

what causes angleman and prader willi

when you inherate a chjromosome 15 mb de;letion frpm dad

when you inheroit a chromosome 15 mb deletion frpm mom

which an individual inherits two copies of a chromosome from one parent and none from the other

When two copies of the maternal chromosome 15 are inherited, ______ rresults because no active paternal genes are present in the critical region.

In ______, the gene that encodes insulin-like growth factor 2 (IGF2) is normally inactive on the maternally transmitted chromosome and active on the paternally transmitted chromosome.

Beckwith–Wiedemann syndrome is caused by...

a clinically heterogeneous group of disorders characterized by growth retardation, proportionate short stature, leg length discrepancy, and a small, triangular-shaped face.

what cxauses silver russel syndrome

when are large expansion repeats most likely to be transmitted?

large-scale testing of populations for disease in an effort to identify persons who probably have the disease and those who probably do not.

population screening for genetic variants that can cause the disease in the person carrying the variant or in the descendants of the carrier.

reflects the ability of the test to correctly identify those with the disease.

the ability of the test to correctly 251identify those without the disease.

what pop is Tay sachs most common in

what pop is sickle cell doisease most common in

what pop is cystic fibrosis most common in

when sensitivity is increased, specifocoty (increase/decreased)

For a given level of sensitivity and specificity, the positive predictive value of a test increases as the prevalence of the disease (incrases/decreases)

an autosomal recessive lysosomal storage disorder in which the lysosomal enzyme β-hexosaminidase A (HEX A) is deficient (see Chapter 7), causing a buildup of the substrate, GM2 ganglioside, in neuronal lysosomes.

screening test fore pku

pku treatment

galactosemia screening test

galacrosemia tratment

sickle cell anemia screening test

sickle cell anemia treatment

cystic fibrsis screening test

what is the most common mutation to cause CF

DNA polymorphisms such as single nucleotide polymorphisms (SNPs) or short tandem repeats (STRs) can be used as markers in

which the disease-causing mutation itself is detected, has become the approach used most commonly in genetic diagnosis.

used to detect deletions or duplications of chromosome regions

can be used to detect copy number variants or large repeat expansions

genetic testing that equires that the disease-causing gene has been identified and sequenced. In addition, each disease-causing mutation requires a different oligonucleotide probe.

large numbers of oligonucleotide probes on a silicon chip are hybridized with labeled patient DNA

It carries out its binding and inhibitory role primarily in the lower respiratory tract, where it prevents neutrophil elastase from digesting the alveolar septa of the lung.

DNA mutation in AAT deficiency

when is amniocentesis performed

performed by aspirating fetal trophoblastic tissue (chorionic villi) by either a transcervical or transabdominal approach

when is chorionic villus sampling perfpormed

(mosaicism in the placenta but not in the fetus itself)

measuruable enzyme maple syreup urine disease

measurable enzyme methylmalonic acoidemia

measureable enzyme in multiple carboxylase deficiencies

measurable enzyme in glycogen storage disease type 2

measurable enztme in galactosemia

measureable enzymes in gangliosidosis disorders

measurable enzyme in lesch-nyhan syndrome

when does the respiratory diverticulu appear in development

what determines the location and appearance of lung bud

an increase in retinoic acid upregulates this TF

what does TBX4 do?

this seperates the respiratory diverticukum from the foregut

Abnormalities in partitioning of the esophagus and trachea by the tracheoesophageal septum result in

VACTERL association

origin intrenal lining of larynx

origin cartilage and muscles of larynx

innervates the derrivitives of the 4th pharyngeal arch

innervates the derivities of the 6th pharygeal arch

what forms from the lung buds? (x3)

Branching has continued to form terminal bronchioles. No respiratory bronchioles or alveoli are present.

Each terminal bronchiole divides into two or more respiratory bronchioles, which in turn divide into three to six alveolar ducts.

Terminal sacs (primitive alveoli) form, and capillaries establish close contact.

Mature alveoli have well-developed epithelial–endothelial (capillary) contacts.

begin before birth and cause aspiration of amniotic fluid. These movements are important for stimulating lung development and conditioning respiratory muscles.

When surfactant is insufficient, the air–water (blood) surface membrane tension becomes high, causing great risk that alveoli will collapse during expiration. As a result, the infant develops

what causes ectopic lung lobes

what causes congenital cysts of the lung