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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

What is metatarsal
Ndotenyin Reply
bone of the foot is known as metatarsal
Patrick
yes 👆 right
Sneha
metatarsal (foot bone).....👍
Rishi
the term "mental" pertain to which of the following a. chin b.navel c. ear d. nose e. skull
cris Reply
a
Lina
chin
Sneha
hi
Mohamed
skull
Monica
skull
Peter
chin
Kelly
skull
Juma
skull
Gul
skull
Laraib
skull
anwaar
skull
Nirmala
skull
Tessmol
chin
Derrick
mental chin nerve
Katarzyna
e. skull
Jennifer
skull
prince
e. skull
Natasha
It's not skull but chin
mwango
what are the three many components of the lymphatic system?
Milica Reply
those are...... organ, tissue and blood capillary or vessals
Juma
anatomical terms and use them appropriatly in the language of anatomy of anterior body landmarks
Teody Reply
what is human anatomy?
rascal Reply
lts stady structured human body's
Sa
what is the study of how the body functions?
Bright
what is abdomipelvic cavity?
david Reply
Includes all organs within the abdomen(stomach,intestines) and those from the pelvic region hence the name... abdomipelvic
Maureen
where can we find the short bones
Chidi Reply
Carpal bones are examples of short bones
Dara
what is blood supply
Chidi
on upper limb and lower limb
Juma
carpal bones
Priya
during pregnancy which would more increase size the mothers abdominal or pelvic cavity?
Nurmalyn Reply
pelvic cavity I think
Priya
What is anatomical position
Nwoye
pelvic
Maureen
@ Nwoye... when standing erect, feet parallel, arms hanging at the sides with palms facing forward
Maureen
define the main directional terms of the body
cris Reply
during physical exercise respiratory rate increace two student are discussing the mechanisms involved. student A claim they are positive feedback and student B claim negative feedback do you agree with student A or B and why
cris
what is the physiology of circulation
Chidi
please I mean the physiology of criculation
Chidi
blood flow refers to the movement of blood through the vessels from arteries to the capillaries and then to the veins
Laraib
during pregnancy, which would more size the mother's abdominal or pelvic cavity? explain
cris Reply
list and define the three plane of devision of the body
cris
complete the following statements using correct directional terms for human being. 1. the navel is________to the nose 2. the heart is______to the breastbone(sternum) 3 the ankle is______to the knee 4 the ear is______to the eyes.
cris
1. superior 2. posterior 3. superior 4. lateral
Mnm
anterior fuerior
Chidi
name the system of the body and its function
cris Reply
11 system are human body 1.integumentary system 2. skeletal system 3. muscular system 4. nervous system 5. endocrine system 6. cardiovascular system 7. lymphatic system 8. respiratory system 9. digestive system 10. urinary system 11. reproductive system male and female.
Vineeta
during pregnancy, which would more size the mother's abdominal or pelvic cavity? explain
cris
how the body maintain hormeostasis in terms of bloodglucose level
cris Reply
It releases hormones from the pancreas insulin and glucagon
TONY
why human blood pressure high
amin Reply
fear, anxiety, sickness
Inemesit
why in mothers womb the foetus head is in anus direction?
Kick
As it seems the position downside n if we did such position thn soon we got vomiting then how foetus stay in downward position long time?
Kick
What is red blood cell
HANNAH Reply
A type of blood cell that is made in the bone marrow and found in the blood. Red blood cells contain a protein called hemoglobin, which carries oxygen from the lungs to all parts of the body. Checking the number of red blood cells in the blood is usually part of a complete blood cell (CBC) test. It
Noor
red blood cell are the most numerous blood cells.they comprise about 99% of all blood cells red blood cells are non nucleated it has red colour due to present to hemoglobin.
Vineeta
Thanks for the answers
HANNAH
how will you promote quality of life in ptb patient using the 14 basic needs and 21 nursing problems?
rOx Reply

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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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