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Expression of Blood Types
Blood type Genotype Pattern of inheritance
A I A I A or I A i I A is dominant to i
B I B I B or I B i I B is dominant to i
AB I A I B I A is co-dominant to I B
O ii Two recessive alleles

Certain combinations of alleles can be lethal, meaning they prevent the individual from developing in utero, or cause a shortened life span. In recessive lethal    inheritance patterns, a child who is born to two heterozygous (carrier) parents and who inherited the faulty allele from both would not survive. An example of this is Tay–Sachs, a fatal disorder of the nervous system. In this disorder, parents with one copy of the allele for the disorder are carriers. If they both transmit their abnormal allele, their offspring will develop the disease and will die in childhood, usually before age 5.

Dominant lethal inheritance patterns are much more rare because neither heterozygotes nor homozygotes survive. Of course, dominant lethal alleles that arise naturally through mutation and cause miscarriages or stillbirths are never transmitted to subsequent generations. However, some dominant lethal alleles, such as the allele for Huntington’s disease, cause a shortened life span but may not be identified until after the person reaches reproductive age and has children. Huntington’s disease causes irreversible nerve cell degeneration and death in 100 percent of affected individuals, but it may not be expressed until the individual reaches middle age. In this way, dominant lethal alleles can be maintained in the human population. Individuals with a family history of Huntington’s disease are typically offered genetic counseling, which can help them decide whether or not they wish to be tested for the faulty gene.

Mutations

A mutation    is a change in the sequence of DNA nucleotides that may or may not affect a person’s phenotype. Mutations can arise spontaneously from errors during DNA replication, or they can result from environmental insults such as radiation, certain viruses, or exposure to tobacco smoke or other toxic chemicals. Because genes encode for the assembly of proteins, a mutation in the nucleotide sequence of a gene can change amino acid sequence and, consequently, a protein’s structure and function. Spontaneous mutations occurring during meiosis are thought to account for many spontaneous abortions (miscarriages).

Chromosomal disorders

Sometimes a genetic disease is not caused by a mutation in a gene, but by the presence of an incorrect number of chromosomes. For example, Down syndrome is caused by having three copies of chromosome 21. This is known as trisomy 21. The most common cause of trisomy 21 is chromosomal nondisjunction during meiosis. The frequency of nondisjunction events appears to increase with age, so the frequency of bearing a child with Down syndrome increases in women over 36. The age of the father matters less because nondisjunction is much less likely to occur in a sperm than in an egg.

Whereas Down syndrome is caused by having three copies of a chromosome, Turner syndrome is caused by having just one copy of the X chromosome. This is known as monosomy. The affected child is always female. Women with Turner syndrome are sterile because their sexual organs do not mature.

Career connections

Genetic counselor

Given the intricate orchestration of gene expression, cell migration, and cell differentiation during prenatal development, it is amazing that the vast majority of newborns are healthy and free of major birth defects. When a woman over 35 is pregnant or intends to become pregnant, or her partner is over 55, or if there is a family history of a genetic disorder, she and her partner may want to speak to a genetic counselor to discuss the likelihood that their child may be affected by a genetic or chromosomal disorder. A genetic counselor can interpret a couple’s family history and estimate the risks to their future offspring.

For many genetic diseases, a DNA test can determine whether a person is a carrier. For instance, carrier status for Fragile X, an X-linked disorder associated with mental retardation, or for cystic fibrosis can be determined with a simple blood draw to obtain DNA for testing. A genetic counselor can educate a couple about the implications of such a test and help them decide whether to undergo testing. For chromosomal disorders, the available testing options include a blood test, amniocentesis (in which amniotic fluid is tested), and chorionic villus sampling (in which tissue from the placenta is tested). Each of these has advantages and drawbacks. A genetic counselor can also help a couple cope with the news that either one or both partners is a carrier of a genetic illness, or that their unborn child has been diagnosed with a chromosomal disorder or other birth defect.

To become a genetic counselor, one needs to complete a 4-year undergraduate program and then obtain a Master of Science in Genetic Counseling from an accredited university. Board certification is attained after passing examinations by the American Board of Genetic Counseling. Genetic counselors are essential professionals in many branches of medicine, but there is a particular demand for preconception and prenatal genetic counselors.

Visit the National Society of Genetic Counselors website for more information about genetic counselors.

Visit the American Board of Genetic Counselors, Inc., website for more information about genetic counselors.

Chapter review

There are two aspects to a person’s genetic makeup. Their genotype refers to the genetic makeup of the chromosomes found in all their cells and the alleles that are passed down from their parents. Their phenotype is the expression of that genotype, based on the interaction of the paired alleles, as well as how environmental conditions affect that expression.

Working with pea plants, Mendel discovered that the factors that account for different traits in parents are discretely transmitted to offspring in pairs, one from each parent. He articulated the principles of random segregation and independent assortment to account for the inheritance patterns he observed. Mendel’s factors are genes, with differing variants being referred to as alleles and those alleles being dominant or recessive in expression. Each parent passes one allele for every gene on to offspring, and offspring are equally likely to inherit any combination of allele pairs. When Mendel crossed heterozygous individuals, he repeatedly found a 3:1 dominant–recessive ratio. He correctly postulated that the expression of the recessive trait was masked in heterozygotes but would resurface in their offspring in a predictable manner.

Human genetics focuses on identifying different alleles and understanding how they express themselves. Medical researchers are especially interested in the identification of inheritance patterns for genetic disorders, which provides the means to estimate the risk that a given couple’s offspring will inherit a genetic disease or disorder. Patterns of inheritance in humans include autosomal dominance and recessiveness, X-linked dominance and recessiveness, incomplete dominance, codominance, and lethality. A change in the nucleotide sequence of DNA, which may or may not manifest in a phenotype, is called a mutation.

Questions & Answers

Card 5 / 12: For whom would an appreciation of the structural characteristics of the human heart come more easily: an alien who lands on Earth, abducts a human, and dissects his heart, or an anatomy and physiology student performing a dissection of the heart on her very first day of class? Why?
Gelowe Reply
what are regular shaped cells with granules in the cytoplasam
Kabita Reply
PMNL
Dinu
I need sylubuss of clinical officers book
Omary Reply
cholesterol normal value is
BISWANATH Reply
less than 200mg/dl
Ashis
100 to159mg/dL
Dinu
Early this wk. I had some "A & P" questions & answers unfortunately didn't save them, Is there any way I can have them back ,so as 2 save them?. Thnx.
Kechi
what are the functions of the female reproductive system
Lister Reply
it produces the female egg necessary for reproduction, called the Ova or Oocytes. The system is designed to transport the Ova to the site of fertilization.
Kechi
Female reproductive system was mainly functioned to produce ova(ovum) (female eggs) Into which will be fertilized by male gamete to produce zygote
Omary
absolutely right
nimco
wa qalad nimco rage iska hubi
Khaliil
waxwalba ka fikirbay ubaahantahay
Ahmed
ha wayo jawabtoda wa qabyo nimco wey ku raacdat
Khaliil
ha wayo jawabtoda wa qabyo nimco wey ku raacday
Khaliil
wxayaabaha qaarkood waaa in aan u feejignaano
Ahmed
asc if I try female reproductive system has two function the first is to produce egg cell and the second is to protact and nourish the offspring until birth
Muriidi
what is stercobilinogen
Hancerich Reply
fecal urobilinogen. Created by bacteria in the gut. a chemical that gives feces brown color.
Blayne
next question pls.
Kechi
The rate of diffusion increases if the
stella
What's the answer?
Kechi
it's a breaking down of haemoglobin and it's a chemical made by bacteria
Dev
Thnx Dev Raj.
Kechi
yup so any more
Dev
yes I sure do need more "Questions" & "Answers". I'm learning whole lot. Thnx.
Kechi
what is the greatest muscle of the body
Lungu Reply
gluteus maximus
ABDULLAH
pls!!! more "A&P" questions & answers. Thnx.
Kechi
Gluteus maximus
THE
Describe anatomy of cardiovascular system?
cardiovascular system is a group of organs coming together to perform the circulation of blood. The organs invoked are the heart and the blood vessels with blood being the tissue. The heart is a pump and it pumps oxygenated blood through the systemic circuit and deoxygenated blood through the pulmon
bernard
pulmonary circuit.
bernard
more A&P questions pls. Thnx.
Kechi
If an ANOVA yields a significant F value, you could rely on ________ to test significant differences between group means.
Dane Reply
what's ANOVA
Cassandra
analysis of variance
Blayne
plz what you mean with "ANOVA" first
Fatima
anova means analysis of variance, a statistical method in which the variation in a set of observations is divided into distinct components.
Blayne
M value ot test
ABDULLAH
What does it mean by M value ot test?
Orpha
formation of red blood cells
Biketi Reply
explain why... lower back pain in ovarian cancer
Srijoni Reply
we says that protoplasm is the living part of us How?
Muzamil Reply
is the leaving part of our cellular structure.
Eric
it is the leaving part of our blood cellular structure also
ABDULLAH
what is receptor?
Preity Reply
an organ or cell able to respond to light, heat, or other external stimulus and transmit a signal to a sensory nerve.
Jessi
Has anyone taken the first exam?
Sandra
yes
yahye
yes
Allan
hey what is the process after your food is swallowed? how long does it take to get to the stomache until it is released as waste?
Fednise Reply
that is such a broad question. as you begin to swallow its various doses down the alimentary canal that brings the food into your stomach.then depending on whether it's a protein carbohydrate fat that dictates what function takes place in your stomach. these are all steps of digestion.
Joseph
typo sorry it's peristalsis , wave-like projections that push food down your alimentary canal etc. digestion starts in your mouth ends in your large intestines (colon anus)
Joseph
some of the many processes of digestion include hydrolysis dehydration synthesis denaturation of proteins etc. you have to be more specific.
Joseph
there's many different contributing factors the how long it takes food to convert into waste. remember fats, triglycerides proteins and carbohydrates all breakdown two different monomers and structures. you should be looking up metabolic processes.
Joseph
depending how much fiber you have in your diet dictates how much water is brought to your intestines that has to do with excretion whether fiber is insoluble or soluble. this is an anatomy and physiology app. to simply say the stomach will empty its contents in 2 to 3 hours would do you a disservice
Joseph
can the study of anatomy relate to medical technologies
Lean Reply
yes
Khh
absolutely
Jessi
yes...
Sherif
how can I understand micro biology and anatomy better.
Cassandra
yes
Kevin
someone to help me understand glycogeneogenesis
abel
what are the major branches of the aorta?
Kevin
look youtube video
Jessi

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Source:  OpenStax, Anatomy & Physiology. OpenStax CNX. Feb 04, 2016 Download for free at http://legacy.cnx.org/content/col11496/1.8
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