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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

50 prefix and surfix
Martha Reply
why arteries deeper than veins?!
Cismaan Reply
arteries colour of blood is deeper than that of vein because its blood contains oxygen which is adhered to haemoglobin(a protein which gives the blood its red color) , while vein contains deoxygenated blood(blood without oxygen)
olusoga
As we know, vein carries used blood to the heart. when we say used blood, we mean to say, blood that its content(oxygen and other nutrients) has been used up.
olusoga
Arteries are deeper b'cuz they need to be protected.......If they are ruptured they cannot form clot and repair themselves.... Moreover, the pressure of blood is too high for the artery to form the clot and repair itself....... Hence, Arteries are deeper than veins........
AMEL
Than u all. Special thanks too AMEL JEELANI.
Cismaan
You're welcome......
AMEL
Thanks all
describe the location of the macula densa and explain its role in the regulation of renin secretion and in tubuglomerular feedback
mwamba Reply
its located near the vascular pole of the glomurelus also regulate blood pressure and the filtration rate of glomurelus
adam
Describe two early induced responses and what pathogens they affect
olivia Reply
what are pathogens
Priscilla
pathogens are disease-causing agents/organisms
olusoga
pathogen are the causative of disease
Marco
thank you sister
Priscilla
mmmmm
Asad
kkkjjjjjjjhgghkkgkgkkjkjkjgjkhjigjkh
Asad
What are organelles
RAPHERA Reply
The are little organs found in cells of living things... Eg gogi apparatus
Lombe
what is anatomy
Linda Reply
is the study of the structures of the body and how they relates to each other
Agyemang
Anatomy is the study of the structures of body parts and how they relates to each other
Agyemang
is the study of the structure of the body and how they relates to each other
NAOMI
what are the difference between Pacinian corpuscle and cutaneous vascular plexus?
thivya Reply
what are membranous epithelial tissues
Naa Reply
they are the lining and covering epithelial tissues which cover body surfaces and line cavities... they're grouped into simple and stratified according to the number of layers and squamous, cuboidal and columnar according to their shape
Ophelia
what is an acina
Nuella
acina is known to be the basic functional unit of the lungs .(singular:- acinus) this is where the alveoli(the gaseous exchange site) is found...
Fatukasi
what happens to the unfertilized egg
Wuraola
the study of tissues is called
Scandy Reply
histology
Sirius
microscopic or histology anatomy
Shan
What specific types of biological macromolecules do living things require and why?
Marieland Reply
what is partial pressure?
Tariq Reply
it is the pressure exerted by mixture of gases...
Fatukasi
What is the Important of studying anatomy and philosophy
Michael Reply
because to know the mechanisms of our body
Tariq
to discover the regional structural of human body based on physically and also biochemically.
thivya
how many region do we have in human body
nsofor Reply
head thorax abdomen and many kind of...
Shan
what is principal ponatine nucleas
Tariq
Human body can be divided into different regions on the basis of: 1. Systems: e.g. digestive system, respiratory system, excretory system etc.. 2. Parts: e.g. head, thorax, neck, upper limbs, lower limbs etc..
AMEL
we have 9 region in d human body
ZAINAB
what is systematic anatomy?
nsofor Reply
it is the anatomy or study of a certain body system for example the digestive system. or respiratory system.
Summer
It is a group of structure that work together to perform a unique function..
RAPHERA
describe the division of anatomy and physiology
Vissa Reply
the what and the how
Josh
anatomy is the structure. physiology is the function.
Gavin
what is homeostasis?
nsofor
the balance if everything in your body
Kare
is the tendency of the body to maintain the internal environment
Flora
It is the ability of systems and living organisms to adjust its internal environment
RAPHERA

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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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