344 chapter 6 and 11 Flashcards
refers to different forms or DNA sequences that a gene may have in a population
allele
single gene defects follow the ___ pattern of inheritance
mendelian
when a person inherits a dominant mutant gene but fails to express it, the trait is described as having reduced
penetrance
autosomal dominant disorders also can display variable ___, meaning that they can be expressed differently by different people
variability
genetic disorder can be caused by a single gene (aka ___) or multiple genes (aka ___)
mendelian
polygenic
in single gene disorders the defective gene may by on an autosome or on the __ chromosome
autosome or X chromosome
single gene disorders may be expressed as a __ or __ trait
dominant or recessive
In an __ dominant disorder, a single mutant allele from an affected parent is transmitted to an offspring
autosomal
In an autosomal dominant disorder, a single mutant allele from an affected parent is transmitted to an offspring regardless of
sex
In an autosomal dominant disorder, the affected parent has a __ % change of passing it to each child
50%
autosomal ___ disorders are manifested only when both members of the gene pair are affected
recessive
in autosomal ___ disorders, usually both parents are unaffected but are carries of the defective gene
recessive
in autosomal recessive disorders the chances of passing it to the child are
25%
sex linked disorders are associated with the __ chromosome
X
sex-linked disorders are those in which an unaffected mother carries one normal and one ___ allele on the X chromosome
mutant
in sex-linked disorders the mother has a 50% change of passing it to her sons and daughters. The sons are affected and the daughters are
carriers
an inherited form of mental retardation that results from a repeating sequence of 3 nucleotides
fragile X
because they have a high need for energy, the nervous system, heart, and muscles are effected in this disorder
mitochondrial DNA disorders
cleft lip is a m___ inheritance disorder
multifactorial
chromosomal disorders result from a change during
meiosis
a change in chromosome number
aneuploidy
the presence of only one member of a chromosome pair
monosomy
syndrome where there is monosomy in the X chromosome in a female
Turner Syndrome
refers to the presence of more than 2 chromosomes in a set, as occurs in Klinefelter Syndrome
polysomy
An example of Trisomy 21, which is the most common disorder of the autosomal chromosome
Down Syndrome
the baby’s most vulnerable time is 15 to __ days after conception
60
a deficiency in __ __ can contribute to neural tube defects
folic acid
deficiency in __ can cause congenital hypothyroidism and impaired neuro development
iodine
impaired neuro development is aka
cretinism
prenatal test, used for determining fetal size and position and for the presence of structural abnormalities
ultrasound
test used to assess down syndrome and neural tube defects
maternal blood screening
procedure used to obtain specimens for study
amniocentesis, chorionic villus sampling, precutaneous umbical blood sampling
the hematopoietic system consists of the different types of blood cells generated from the __ stem cells
pluripotent
the pluripotent stem cells in the __ marrow
bone marrow
the development of the different kinds of blood cells is supported by growth factors, chemical mediators, and __ __ factors
colony stimulating factors
WBC arise from m___ stem cells
myeloid
the paracortex (area between the medullary and outer superficial cortices) of the lymph node contains
t cells
b cells are in which part of the lymph node
cortex
the __ follicles in lymph nodes have active germinal centers
secondary
neoplastic disorders of hematopoietic and lymphoid origin include the leukemias, lymphomas, and multiple ___
myeloma
a malignant neoplasm arising from the transformation of a single blood cell line
leukemia
leukemia involves hematopoietic stem cells in the __ __
bone marrow
because leukemic cells are immature and poorly differentiated, they multiply quickly and have a __ life span
long
messed up kind of cell that interferes with the maturation of normal blood cells, cross the BBB, and infiltrate organs
leukemic cells
leukemias are classified according to their cell type, ___ or ___ and according to whether it’s acute or chronic
lymphocytic or myelocytic
The ___ leukemias involve immature lymphocytes and their progenitors that originate in the bone marrow but infiltrate other tissue
lymphocytic leukemias
The ___ leukemias involve the pluripotent myeloid stem cells in the bone marrow and interfere with the maturation of all blood cells
myelogenous
__ leukemias have a sudden and stormy onset
acute leukemias
symptoms of depressed bone marrow function, bone pain, splenomegaly, hepatomegaly
acute leukemias
__ leukemia, mostly affects adults and has an insidious onset
chronic
malignant neoplasms that arise in the peripheral lymphoid tissues
non-hodgkin and hodgkin lymphoma
lymphoma that originates in the lymph nodes, is multicentric in origin and spread early to various tissue (esp liver, spleen, and bone marrow)
non-hodgkin lymphoma
a group of cancers characterized by Reed-Sternberg cells that begins as a malignancy in a single lymph node and then spreads to contiguous lymph nodes
hodgkin lymphoma
both types of lymphomas are characterized by manifestations related to uncontrolled lymph node and lymphoid tissue growth, bone marrow involvement, fever, fatigue, weight loss
hodgkin and non-hodgkin
a plasma cell dyscrasia characterized by expansion of a single clone of Ig-producing plasma cells and a resultant increase in serum levels of a single monoclonol Ig
multiple myeloma
the main sites involved in multiple myeloma are the __ and bone marrow
bone
in multiple myeloma, in addition to the abnormal proliferation of marrow plasma cells, there is activation of __ which leads to bone reabsorption
osteoclasts
because of increased osteoclast activity, there’s increased risk for fractures and hypercalcium in this disease
multiple myeloma
in this disease, you can have hyperviscosity causing heart failure and neuropathy
multiple myeloma
Marfan syndrome is what type of disorder
autosomal dominant
syndrome where the fibers of the heart valves and blood vessels are impaired
Marfan syndrome
myopia, skeletal deformities (chest and spine) long arms, hyper flexible, heart valve/blood vessel problems
marfan syndrome
neurofibromatosis is what type of disorder
autosomal dominant
disorder where tumors arise is schwann cells and the rest of the peripheral nervous system
neurofibromatosis
subcutaneous lesions, large tumors, cafe au lait spots, scoliosis, facial disfigurement, overgrowth of a limb, learning disability, abnormal speech
neurofibromatosis
phenylketonuria (PKU) is what kind of disorder
autosomal recessive
Tay-Sachs disease is what kind of disorder
autosomal recessive
disease where the lysosomes don’t work properly
tay-sachs
signs of impaired brain, seizures, decreased pigment, eczema, retardation
PKU
progressive destruction of neurons in the brain and retina
tay-sachs
infants have progressive weakness, decreased mental function, seizures, poor vision, death at 4 to 5 years old
tay-sachs
analysis of blood for the enzyme hexosamidase can show that someone is a genetic carrier for this disease (if they are low in the enzyme)
tay-sachs
intellectual disability, large face, mitral valve prolapse
fragile x syndrome
cleft palate is what kind of disorder
multifactorial inheritance
mitotic errors during cleavage of the fertilized ovum or in somatic cells give rise to 2 or more cell lines characterized by distinctive kryoptypes
mosaicism
women: short stature but normal body proportions, no ovaries or secondary sex characteristics, heart problems, neck web
Turner syndrome
men: testicular dysgenesis, extra X chromosome, tall, feminine traits
klinefelter syndrome
a decrease in the absolute number of leukocytes in the blood
leukopenia
in __ anemia, all the myeloid stem cells are affected, resulting in anemia, lack of thrombocytes, lack of neutrophils
aplastic anemia
severe congenital neutropenia
kostmann syndrome
primary pathogen-fighting cells
Neutrophils
help control allergic responses; fight parasites
Eosinophils
release heparin, histamine, and other inflammatory mediators
Basophils
Mutation of myeloid cell line results in ___ ___
Myelocytic Leukemias
Overproduction of abnormal monocytes or granulocytes is associated with ___ Leukemias
Myelocytic Leukemias
in Hodgkin lymphoma, Malignant _ cells invade lymphoid organs
B
Myeloma is characterized by abnormal __ cells that can form tumors
B
X or Y chromosome
sex-linked
Other chromosomes besides X or Y
autosomal
In this disorder a single mutant allele from an affected parent is transmitted to an offspring regardless of sex
Autosomal Dominant
If all your copies of a gene (alleles) are alike, you are
homozygous
If your copies of a gene (alleles) are different you are
heterozygous
If you have only one copy of a gene, you are
hemizygous
If you have the allele with intermediate penetrance for a trait, do you display the trait?
sometimes
chromosomal damage, occurs when there are simultaneous breaks in 2 chromosomes from different pairs, with exchanging of chromosome parts.
translocation
chromosomal damage, occurs when the chromosome separates horizontally instead of vertically
isochromosome
the only type of chromosome damage where the child is still normal because no DNA was actually lost
translocation
a chance in the number of chromosomes
aneuploidy
the presence of only 1 member of a pair of chromosomes
monosomy
fragile x syndrome involves ___ disability
intellectual
the mitochondrial myopathies are often associated with the so called __ __ fibers
ragged red
