Genetics Chapter 6

The ____ contains cell entire genome.

The large segment of DNA with 1000 cells is called the ____.

One longitudinal half of the chromosome is called the _____.

A small segment of DNA that codes for a specific protein/trait is called a ____.

The individual building blocks of DNA are called _____. There are ____ base pairs in one gene.

One singular chromosomes is formed during the ____ stage of mitosis. Chromosomes are large ____ of DNA in a temporary structure containing many genes. They are visible with a standard light microscope only during the ___ phase of cell division. A parir of chromosomes is formed during the ___ phase of cell division. This new structure is then able to be ____ apart during the M phase.

A major purpose of packing DNA into shapes of the 46 chromosomes is to ensure ____ delivery of DNA to next cell generation. ____ in this delivery leads to chromosomal disorders.

Humans have ____ total chromosomes and 23 pairs with each half being gained from each ____.

The process of forming mature sex cells that are capable of uniting at conception to start a new person is called ____

nucleus; chromosome; chromatid; gene; nucleotides; 6; metaphase; chunk; M; S; pulled; precise; errors; 46; parent; gametogenesis

A ____ ____ occurs when pieces from 2 diff chromosomes break off and swap places with no loss of genetic material. These people will live ___ lives without disease.

A special type of translocation b/w two acrocentric chromosomes is called the _____ transclocation. Acrocentric chromosomes are chromosomes in which the _____ is very close to that one end. They have one short arm referred to as ___ and one long arm referred to as ____. The acrocentric chromosomes are 13, ___, 15, 21, and ____. This is when the two different chromosomes ___ together. This can be diagnosed using plain stained ___. Identifying specific chromosomes involved requires using _____.

When parts of nonhomologous chromosomes are exhanged bu the correct amount of info is there, this is called a ____ translocation. This can occue w ___ two chromosomes. Appearance is not affected.

balanced translocation; healthy; robertsonian; centromere; p; q; 14; 22; fuse; karyotype; banding; reciprocal; any

Problems are common when a person with a balanced translocation _____.

In a balanced robertsonian, there are 3 diff types of gametes possible: gametes w 1, 2, or ___ chromosomes of a pair. If they have 1 pair, they will be of a ____ status. If a child inherts more than or less than 2 copies of a chromosome, this is called a ____ translocation.

A ____ occurs when you have 3 copies of the same chromosome. A _____ occurs when you only have 1 copy of the same chromosome.

reproduces; 0; carrier; unbalanced; trisomy; monosomy

An extra copy of a chromosome is called ____. This is can occur due to ____ during gametogenesis which is a cell division error in which chromosomes fail to separate properly. This causes one gamete to retain ____ chromosomes of a pair and the other gamete has none. This is more common with ____ maternal age. This can also develop from gamete formation in a person who has a ____ translocation carrier. Trisomy is most common with chromosomes 21, 13, and ____.

A trisomy on chromosome 13 is called ____ syndrome. This affects ___ more than the other gender. Most are usually born ____ but those who are born live usually die within the 1st year. Patients with this condition usually have a small head, a low-set of ears, and a ___ palate. They may also have ___ bottom feet and syndactyly.

Trisomy 18 is called ____ syndrome. It affects females more and most are stillborn or die within a year. They have rocker bottom feet, ___ fingers, and a clenched fist. They also may have brain ____ and dec intellectual development. The most common cardiac defect is a ___ septal defect.

Trisomy 21 is called ____ syndrome and is the most common. It affects both genders ___. Associated features include a low set ears, a singular ____ crease, a ____ facial profile, and a heart ____. Males are usually ____ while women can reproduce.

trisomy; nondisjunction; both; advancing; balanced; 18; patau; females; tillborn; cleft; rocker; edwards; overlapping; cysts; ventricular; down; equally; palmar; flat; murmur; sterile;

The actual number of chromosomes present ina single cell nucleus at mitosis is called ____. The ____ chromosomenumber is a complete set of one of each chromosome. A _____ chromosome number is a complete set of both pairs of all chromosomes. ____ is the condition of having additonal whole sets of extra chromosomes in a nucleus.

In a karyotype, the pairs are arranged by size form ___ to smallest and in centromere position, from most ____ to acrocentric.

Metacentrenic chromosomes have a centromere closest to the ___ and the p and q arms being the same lenght.

Submetacentric chromosomses have a centromere that is not in the center so the p arms are clearly ___ than the q arms.

Acrocentric chromosomes have the centromere at the _____ of the q arms so that there is little to no p-arm.

The exact allele pair composition present for any given single-gene trait is called a ____.

The observed expression of any given single-gene trait is called a ____

A single-gene trait that is expressed regardless of whether the two gene alleles are identical or different is called a ____ trait.

A single-gene trait that is expressed only when both gene alleles for the trait are identical is called a ____ trait.

A single-gene trait in which two different dominant gene alleles are both expressed equally is called a ____ trait.

ploidy; haploid; diploid; polyploidy; largest; metacentric; center; shorter; top; genotype; phenotype; dominant; recessive; codominant

A ___ shows chromosome count, structural changes, and sex chromosomes. A ___ band shows less active genes but are rich in adenine and ___. A ___ band shows more active genes and is rich in ___ and cytosine.

During gametogenesis, a chromosome can be ____ from a free-standing position to attach to another chromosome. If the material brought is the correct ____, this is a balanced translocation.

Gene expression is less affected by differences in location but rather by differences in the ____ of alleles or base sequence.

karyotype; dark; thymine; light; guanine; translocated; amount; amount

When a section of DNA is missing this is called a ____ chromosome deletion. It is considered rare and deletions are ____ common than duplications. Deletions result in loss of ____. Larger deletions are more likely to result in observable _____. This usually occurs during random events during _____.

Examples include:

1. ____ symdrome is partial deltion of chromosome 11. This leads to ____ malformations like hypospadias or extrophy of the bladder. Most will develop ___ tumor before age 5. They may also have aniridia which is absence/underdevelopment of the ____.

2. ____ which is due to partial deletion of the inherited chromosome 13 which is a tumor in the retina.

3. Cri du chat is a partial deletion of chromosome ___. Infants will have a distinctive ___ like cry, wide spaced qyes, and a cleft palate.

____ syndrome occurs when the gene UBE3A is nonfunctional in the cell. This gene is usually only functional on the ____ chromosome. There are different causes:

1. Genetic ___ in the gene causing it to be nonfunctional

2. A chromosome 15 ____ of the rmaternal copy

3. When both chromosomes are inherited by the ___

4. Genomic ____ errors.

Patients with this syndrome are unseady, ___, developmentally delayed, have poor speech development and have hand ____ motions.

partial; more; alleles; phenotypes; gametogenesis; WAGR; GU; wilms; iris; retinoblastoma; 5; cat; angelman; maternal; mutation; deletion; father; imprinting ; clumsy; flapping

A deletion of the paternal chromosome 15 from q11 to q13 is called _____ - ____ syndrome. They have normal features at birth but the most outstanding feature is an insatiable ____ that manifests by age 3. Be vigilant to watch for obesity and childhood ____. Other symptoms include:

1. ____ shaped eyes

2. A ____ mouth

3. Short height and ___ hands/feet

4. Underdeveloped _____

5. Sleep abnormalities, obsessive and ___ disorders

6. Delayed ___ and infertility

prader willi; appetite; diabetes; almond; triangle; small; genitals; compulsive; puberty

A rare occurrence in which genomic input of one parent’s allele(s) fails to contribute to the offspring’s phenotype is called genomic ____. Imprinted genes are genes where which ___ the gene comes from matters.

This is known to occur through a process called _____ ___ in which both chromosomes of a pair are contributed by only one parent.

____ is when an organism from a single zygote has 2 or more cell populations with distinct genotypes. There is an ability to self correct in which they push teh abnomral cells to the _____.This usually represents an eror in chromosome ____ after conception in which some cells have the error and some do not. The degreee of phenotypic expression depends on the ____ of cells within a tissue that have normal vs abnormal karyotype. This is often what explains unaffected ____ function in those with trisomy 21.

imprinting; parent; uniparental disomy; mosaicism; outside; segregation; percentage; intellectual

When there is a trisomy of the X chromosome, this leads to a ____ female phenotype. Their ___ will be greater than average and that of siblings. There may be a slight delay in ___ and motor skills, but fertility is ____.

A tetrasomy or pentasomy in X is very ___ and incidences are unknown.

A tetrasomy will lead to somebody who is very ___ and with greatly reduced ____ function.

A pentasomy will lead to a ____ stature , reduced intellectual function, a cleft ___, coarse facial features, hypotnia, etc.

normal; height; language; unaffected; rare; tall; intellectual; short; palate

____ syndrome occurs in a male that has an extra x chromosome or XXY. In infancy and childhood, there is a normal phenotype, but issues start occuring when ____ begins.

It is caused by maternal and paternal nondisjunction associated with ___ parenteral aging.

Features includes:

1. Height being ____ than average with long legs.

2. ____ testes and penis

3. Gynecomastia

4. Azoospermia and oligospermia which are common causes of _____.

5. Low ___ levels and high FSH levels

6. Osteoporosis

7. Autoimmune disorders like ____

8. Delayed ___ and mtoor skills

9. Higher incidence of ___ spectrum disorders and ADHD

klinefelter; puberty; advanced; taller; small; infertility; testosterone; lupus; walking; autism

When there is an extra Y chromosome this is called ____ syndrome. This is due to a _____ error during meiosis II. The only phenotypic feature is a _____ stature. Fertility is unaffected but there is inc incidence among ____. Patients may also have severe teenage ____, slower motor and language development.

jacobs; paternal; tall; offspring; acne

____ involves missing a copy of one chromosome. It can result from ____ during gametogenesis, which allows one gamete to retain both chromosoems of a pair and one gamete to have no chromosomes for that pair. It may also occur from gamete formation in a persion who is a balanced translocation ____.

Nondisjunction is more common with advancing ____ age.

monosomy; nondisjunction; carrier; maternal

A monosomy of X in girls is called ___ syndrome. This is the most ___ chromosome problem concerived. Most conceptions are lost early as ____ but live-born infants are thought to have undiagnosed ____. This is often diagnosed by prenatal ___ or at birth.

The ______ functioning is same as general populations.

Consistent features include:

1. A ___ stature w dec growth rate

2. No adolescent growth spurt

3. In newborns, there is pedal ____

Other features include neck ___, kyphosis/scoliosis, and osteoporosis. There are also ___ problems, a high/narrow palate, poor dentition, a ____ posterior headline, ____ (very common), aortic malformations, CAD, DM, and hypothyroidism. There may be renal/GU issues, absent or delayed ___, poor breast development, underdeveloped ____, infertility, etc.

For these patients its important to monitor BP, blood ___, aortic malformations, and get a ____.

turner; common; miscarriages; mosaicism; ultrasound; intellectual; short; edema; webbing; vision; low; HTN; menses; uterus; sugar; EKG

The most common genetic problem leading to reduced cognition among males is called ____ X syndrome. This involves the ____ of the expression of the FXMR1 gene which is responsible for ___ devlopment and maintenance of neuronal synapses.

Silencing results from escessive trinucleotide ____ sequences like CGG and ___ within the noncoding regions of the FXMR1 gene on X chromosome.

The degree of expression depends on the # of repeat sequences with less than __- repeats having no problems.

Women with 50-200 repeat sequences are premutation ____. Problems occur when the # of repeat sequences increase by ____ which inc by each succeeding generation. It is often initally diagnosed in a ___ child in a family with no HX of the problem.

It is transmitted by an unaffected grandfather to all his ___ who are then premutation carriers with disease expression in a ____.

Associative features:

1. Autism spectrum disorders

2. Poor ___ and coordination

3. Poor verbal skills, high anxiety, ___ deficit

4. A long and ___ face, large ears

5. ____ or when the eyes are not properly aligned

6. Recurrent ___ ear infections

7. Large testicles

8. In women, there is delayed ____

Associated syndroms including primary ___ insufficiency and tremor/ataxia syndrome.

fragile; silencing; brain; repeat; methylation; 50; carriers; expansion; male; daughters; grandson; balance; attention; narrow; strabismus; middle; puberty; ovarian

When some ppl have a natural genotype of one gender and the phenotype of the other gender is called ___ ___. This issue may not come to light until the person enters ____ and development does not proceed expected.

Most often difference b/w gender genotype and phenotype is related to embryonic tissue that is _____ to normal hormonal influences or the hormones responsible for directing specific tissue development are not _____. Both issues are genetic in origin.

After early embyonic life, the cells destines to become gonadal tissue develop into either a ___ or an ovary depending on the ____ environment.

When the genotype allows production of the appropriate hormones and other protein products, the precursor tissues for the correct gender are ____ and the ones for the other gender are ____

If the right hormones or influencing proteins are not present because of a gene mutation, the ____ tissue may develop

Even if the right hormones and influencing proteins are present, if the receiving tissue lacks the ______ for these substances, the tissues will not respond to these inducing substances and will not develop into the correct genitals for the genotype. The opposite tissue may develop to some degree but not ____ or correctly.

sex reversal; puberty; insensitive; present; testis; chemical; enhanced; suppressed; wrong; receptors; completely

In normal male development, on the Y chromosome, the ___ gene produces TDF which leads to testis formation. The testis secretes ___ which stimulates mesonephric ducts to form the male structures. The ____ (anti-Mullerian factor) causes regression of female ducts.

In female development, in the absence of Y genes, there is a presence of ____ hormones. The ___ gonad develops into ovary.

SRY; testosterone; AMF; maternal; bipotential

Sex reveral in females is called ___ ____ syndrome. The patient has a female phenotype and a genotype of ___. They have a defective androgen ____ which causes the testes to form and secrete _____; however, the tissues cannot respond. THe mesonephric duct regresses and their is ___ female duct growth.

Clinical features include:

1. An external ____ genitalia, but there is no uterus or fallopian tubes which means there is no menstruation and _____.

2. There is a ___ ending vagina and sparse body hair.

3. The ____ are often found intraabdominally or inguinally due to it be undescended which inc the risk for ____.

Management includes:

1. A ____ which is removal of the testses

2. A vaginal ____ is possible.

androgen insensitivity; XY; receptor; testosterone; partial; female; fertility; blind; testes; cancer; gonadectomy; reconstruction

Sex reveral for men is called de la ____ syndrome. They have the genotype of ____ but the phenotype and are raised as men.

This occurs when the ___ gene is translocated to the X chromosome. Even without the Y chromosome, the SRY gene alone can direct testis and ____ structure development.
Features include:

1. A male phenotype of ___ stature.

2. No ____ leading to infertility

3. May have hypospadias or ____

4. Similar to klinefelter in infertility but usually normal intelligence and penile ___

chapelle; XX; SRY; male; short; sperm; cryptorchidism; length

Small cytoplasmic organelles that produce most of the chemical energy that drives cellular functions are called ___. They are the most abundant in tissues with high ___ rates. They contain a small amount of mitochondrial DNA (mtDNA) that encode for ____ needed to produce ATP.

mdDNA replicates separatley from nuclear DNA and has ___ repair mechanisms. Mutations reduce cell function as the limit the amount of ____ available. All mitochondria are inherited from the ____ at conception. The mature ovum is complete with _____ mitochondria.

The mtDNA is ____ in shape.

In a sperm, the mtDNA is located in the ____, while the nuclear DNA is located in its ____. During fertilization, the sperm’s tail does not stay in the ovum and all the resulting zygote’s cytoplasm and mitochondria are from the ____.

There are a few genes in nuclear DNA that code for proteins involved in mitochondrial function and ATP productioin but they are small and ____ mutate.

Mitochondrial disorders have problems that are most frequently noted in tissues requiring high performance of mitochondria like the _____, CV, and neurological system.

Expression of problems vary bc of ____ distribution of affected mtDNA.

mitochondria; metabolic; proteins; fewer; ATP; mother; 100000; circular; tail; head; ovum; seldom; musculoskeletal; uneven

Mitochondrial ____ is the co-existence of multiple, distinct mtDNA sequences within a single cell or individual.

Causes include:

1. ____ inheritance of the variants

2. Somatic ____ during life

3. Replication or ____ errors in mtDNA

4. ____ damage from reactive oxygen species

Factors shaping levels or %:

1. Tissue variability

2. Age related changes in which mutations ____ and there are many rounds of replications

3. Mutations in ____ genes that make proteins for mtDNA

4. The ____ effect during cell division in which a random subset % of mutations is passed on.

Implications:

1. The disease severity depends on the _____ of mutated mtDNA.

2. Involved in mitochondrial diseases, ____, aging, and cancer

3. It is a potential _____ for disease risk and clonal expansion.

heteroplasmy; maternal; mutations; repair; oxidative; accumulate; nuclear; bottleneck; percentage; diabetes; biomarker

Leber’s hereditary optic neuropathy (LHON) is an example of a _____ disorder. This is tissue _____in that it only affects the optic nerve. It leads to bilateral progressive ____ loss. It is expressed in early ______.

mitochondrial; specific; vision; adulthood

Myoclonic epilepsy with ragged red fibers is an example of a ____ disorder. This affects ___ tissues. Expression begins in early ____. It progresses to ataxia, muscle ____, dementia, hearing loss, blindness, and ____ (heart)

mitochondrial; many; childhood; weakness; cardiomyopathy

Mitochondrial encephelopathy, lactic acidosis, and stroke-like episodes (MELAS) is an example of a ____ disorder. It affects many tissues and ____.

It begins in middle childhood with recurrent _____, gen tonic-clonic ____, and muscle weakness.

It progressses to intermittent ons-sided ____ and blindness

In adulthood, manifestations progress to impaired ____ ability, reduced vision/hearing/cognition, and ___ mellitus.

mitochondrial; organs; headaches; seizures; paralysis; motor; diabetes