Module 28: Development and Inheritance

Lesson 10: Genetics: Patterns of Inheritance

Di Truyền: Các Quy Luật Di Truyền

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Dưới đây là danh sách những thuật ngữ Y khoa của module Development and Inheritance.
Khái quát được số lượng thuật ngữ sẽ xuất hiện trong bài đọc và nghe sẽ giúp bạn thoải mái tiêu thụ nội dung hơn. Sau khi hoàn thành nội dung đọc và nghe, bạn hãy quay lại đây và luyện tập (practice) để quen dần các thuật ngữ này. Đừng ép bản thân phải nhớ các thuật ngữ này vội vì bạn sẽ gặp và ôn lại danh sách này trong những bài học (lesson) khác của cùng một module.

Medical Terminology: Development and Inheritance

acrosomal reaction
release of digestive enzymes by sperm that enables them to burrow through the corona radiata and penetrate the zona pellucida of an oocyte prior to fertilization
acrosome
cap-like vesicle located at the anterior-most region of a sperm that is rich with lysosomal enzymes capable of digesting the protective layers surrounding the oocyte
afterbirth
third stage of childbirth in which the placenta and associated fetal membranes are expelled
allantois
finger-like outpocketing of yolk sac forms the primitive excretory duct of the embryo; precursor to the urinary bladder
allele
alternative forms of a gene that occupy a specific locus on a specific gene
amnion
transparent membranous sac that encloses the developing fetus and fills with amniotic fluid
amniotic cavity
cavity that opens up between the inner cell mass and the trophoblast; develops into amnion
autosomal chromosome
in humans, the 22 pairs of chromosomes that are not the sex chromosomes (XX or XY)
autosomal dominant
pattern of dominant inheritance that corresponds to a gene on one of the 22 autosomal chromosomes
autosomal recessive
pattern of recessive inheritance that corresponds to a gene on one of the 22 autosomal chromosomes
blastocoel
fluid-filled cavity of the blastocyst
blastocyst
term for the conceptus at the developmental stage that consists of about 100 cells shaped into an inner cell mass that is fated to become the embryo and an outer trophoblast that is fated to become the associated fetal membranes and placenta
blastomere
daughter cell of a cleavage
Braxton Hicks contractions
weak and irregular peristaltic contractions that can occur in the second and third trimesters; they do not indicate that childbirth is imminent
brown adipose tissue
highly vascularized fat tissue that is packed with mitochondria; these properties confer the ability to oxidize fatty acids to generate heat
capacitation
process that occurs in the female reproductive tract in which sperm are prepared for fertilization; leads to increased motility and changes in their outer membrane that improve their ability to release enzymes capable of digesting an oocyte’s outer layers
carrier
heterozygous individual who does not display symptoms of a recessive genetic disorder but can transmit the disorder to their offspring
chorion
membrane that develops from the syncytiotrophoblast, cytotrophoblast, and mesoderm; surrounds the embryo and forms the fetal portion of the placenta through the chorionic villi
chorionic membrane
precursor to the chorion; forms from extra-embryonic mesoderm cells
chorionic villi
projections of the chorionic membrane that burrow into the endometrium and develop into the placenta
cleavage
form of mitotic cell division in which the cell divides but the total volume remains unchanged; this process serves to produce smaller and smaller cells
codominance
pattern of inheritance that corresponds to the equal, distinct, and simultaneous expression of two different alleles
colostrum
thick, yellowish substance secreted from a mother’s breasts in the first postpartum days; rich in immunoglobulins
conceptus
pre-implantation stage of a fertilized egg and its associated membranes
corona radiata
in an oocyte, a layer of granulosa cells that surrounds the oocyte and that must be penetrated by sperm before fertilization can occur
cortical reaction
following fertilization, the release of cortical granules from the oocyte’s plasma membrane into the zona pellucida creating a fertilization membrane that prevents any further attachment or penetration of sperm; part of the slow block to polyspermy
dilation
first stage of childbirth, involving an increase in cervical diameter
dominant
describes a trait that is expressed both in homozygous and heterozygous form
dominant lethal
inheritance pattern in which individuals with one or two copies of a lethal allele do not survive in utero or have a shortened life span
ductus arteriosus
shunt in the pulmonary trunk that diverts oxygenated blood back to the aorta
ductus venosus
shunt that causes oxygenated blood to bypass the fetal liver on its way to the inferior vena cava
ectoderm
primary germ layer that develops into the central and peripheral nervous systems, sensory organs, epidermis, hair, and nails
ectopic pregnancy
implantation of an embryo outside of the uterus
embryo
developing human during weeks 3–8
embryonic folding
process by which an embryo develops from a flat disc of cells to a three-dimensional shape resembling a cylinder
endoderm
primary germ layer that goes on to form the gastrointestinal tract, liver, pancreas, and lungs
epiblast
upper layer of cells of the embryonic disc that forms from the inner cell mass; gives rise to all three germ layers
episiotomy
incision made in the posterior vaginal wall and perineum that facilitates vaginal birth
expulsion
second stage of childbirth, during which the mother bears down with contractions; this stage ends in birth
fertilization
unification of genetic material from male and female haploid gametes
fertilization membrane
impenetrable barrier that coats a nascent zygote; part of the slow block to polyspermy
fetus
developing human during the time from the end of the embryonic period (week 9) to birth
foramen ovale
shunt that directly connects the right and left atria and helps divert oxygenated blood from the fetal pulmonary circuit
foremilk
watery, translucent breast milk that is secreted first during a feeding and is rich in lactose and protein; quenches the infant’s thirst
gastrulation
process of cell migration and differentiation into three primary germ layers following cleavage and implantation
genotype
complete genetic makeup of an individual
gestation
in human development, the period required for embryonic and fetal development in utero; pregnancy
heterozygous
having two different alleles for a given gene
hindmilk
opaque, creamy breast milk delivered toward the end of a feeding; rich in fat; satisfies the infant’s appetite
homozygous
having two identical alleles for a given gene
human chorionic gonadotropin (hCG)
hormone that directs the corpus luteum to survive, enlarge, and continue producing progesterone and estrogen to suppress menses and secure an environment suitable for the developing embryo
hypoblast
lower layer of cells of the embryonic disc that extend into the blastocoel to form the yolk sac
implantation
process by which a blastocyst embeds itself in the uterine endometrium
incomplete dominance
pattern of inheritance in which a heterozygous genotype expresses a phenotype intermediate between dominant and recessive phenotypes
inner cell mass
cluster of cells within the blastocyst that is fated to become the embryo
involution
postpartum shrinkage of the uterus back to its pre-pregnancy volume
karyotype
systematic arrangement of images of chromosomes into homologous pairs
lactation
process by which milk is synthesized and secreted from the mammary glands of the postpartum female breast in response to sucking at the nipple
lanugo
silk-like hairs that coat the fetus; shed later in fetal development
let-down reflex
release of milk from the alveoli triggered by infant suckling
lightening
descent of the fetus lower into the pelvis in late pregnancy; also called “dropping”
lochia
postpartum vaginal discharge that begins as blood and ends as a whitish discharge; the end of lochia signals that the site of placental attachment has healed
meconium
fetal wastes consisting of ingested amniotic fluid, cellular debris, mucus, and bile
mesoderm
primary germ layer that becomes the skeleton, muscles, connective tissue, heart, blood vessels, and kidneys
morula
tightly packed sphere of blastomeres that has reached the uterus but has not yet implanted itself
mutation
change in the nucleotide sequence of DNA
neural fold
elevated edge of the neural groove
neural plate
thickened layer of neuroepithelium that runs longitudinally along the dorsal surface of an embryo and gives rise to nervous system tissue
neural tube
precursor to structures of the central nervous system, formed by the invagination and separation of neuroepithelium
neurulation
embryonic process that establishes the central nervous system
nonshivering thermogenesis
process of breaking down brown adipose tissue to produce heat in the absence of a shivering response
notochord
rod-shaped, mesoderm-derived structure that provides support for growing fetus
organogenesis
development of the rudimentary structures of all of an embryo’s organs from the germ layers
parturition
childbirth
phenotype
physical or biochemical manifestation of the genotype; expression of the alleles
placenta
organ that forms during pregnancy to nourish the developing fetus; also regulates waste and gas exchange between mother and fetus
placenta previa
low placement of fetus within uterus causes placenta to partially or completely cover the opening of the cervix as it grows
placentation
formation of the placenta; complete by weeks 14–16 of pregnancy
polyspermy
penetration of an oocyte by more than one sperm
primitive streak
indentation along the dorsal surface of the epiblast through which cells migrate to form the endoderm and mesoderm during gastrulation
prolactin
pituitary hormone that establishes and maintains the supply of breast milk; also important for the mobilization of maternal micronutrients for breast milk
Punnett square
grid used to display all possible combinations of alleles transmitted by parents to offspring and predict the mathematical probability of offspring inheriting a given genotype
quickening
fetal movements that are strong enough to be felt by the mother
recessive
describes a trait that is only expressed in homozygous form and is masked in heterozygous form
recessive lethal
inheritance pattern in which individuals with two copies of a lethal allele do not survive in utero or have a shortened life span
sex chromosomes
pair of chromosomes involved in sex determination; in males, the XY chromosomes; in females, the XX chromosomes
shunt
circulatory shortcut that diverts the flow of blood from one region to another
somite
one of the paired, repeating blocks of tissue located on either side of the notochord in the early embryo
syncytiotrophoblast
superficial cells of the trophoblast that fuse to form a multinucleated body that digests endometrial cells to firmly secure the blastocyst to the uterine wall
trait
variation of an expressed characteristic
trimester
division of the duration of a pregnancy into three 3-month terms
trophoblast
fluid-filled shell of squamous cells destined to become the chorionic villi, placenta, and associated fetal membranes
true labor
regular contractions that immediately precede childbirth; they do not abate with hydration or rest, and they become more frequent and powerful with time
umbilical cord
connection between the developing conceptus and the placenta; carries deoxygenated blood and wastes from the fetus and returns nutrients and oxygen from the mother
vernix caseosa
waxy, cheese-like substance that protects the delicate fetal skin until birth
X-linked
pattern of inheritance in which an allele is carried on the X chromosome of the 23rd pair
X-linked dominant
pattern of dominant inheritance that corresponds to a gene on the X chromosome of the 23rd pair
X-linked recessive
pattern of recessive inheritance that corresponds to a gene on the X chromosome of the 23rd pair
yolk sac
membrane associated with primitive circulation to the developing embryo; source of the first blood cells and germ cells and contributes to the umbilical cord structure
zona pellucida
thick, gel-like glycoprotein membrane that coats the oocyte and must be penetrated by sperm before fertilization can occur
zygote
fertilized egg; a diploid cell resulting from the fertilization of haploid gametes from the male and female lines
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Dưới đây là các bài văn nằm ở bên trái. Ở bên phải là các bài luyện tập (practice) để đánh giá khả năng đọc hiểu của bạn. Sẽ khó khăn trong thời gian đầu nếu vốn từ vựng của bạn còn hạn chế, đặc biệt là từ vựng Y khoa. Hãy kiên nhẫn và đọc nhiều nhất có kể, lượng kiến thức tích tụ dần sẽ giúp bạn đọc thoải mái hơn.
Imagine unraveling the secrets of how you got your eye color or the shape of your nose – that’s the captivating journey into patterns of inheritance! It is like a genetic recipe book that determines what makes you, well, you. Think of genes as the chefs, passing down traits from one family cooking pot to the next. From the classic Mendel’s pea experiments to the latest genetic discoveries, this journey explores the cool and sometimes quirky ways our traits are inherited, giving us a sneak peek into the awesome blueprint of life. So, get ready to dive into the science behind why you’re a unique blend of family flavors!
In the case of cystic fibrosis, the disorder is recessive to the normal phenotype. However, a genetic abnormality may be dominant to the normal phenotype. When the dominant allele is located on one of the 22 pairs of autosomes (non-sex chromosomes), we refer to its inheritance pattern as autosomal dominant. An example of an autosomal dominant disorder is neurofibromatosis type I, a disease that induces tumor formation within the nervous system that leads to skin and skeletal deformities. Consider a couple in which one parent is heterozygous for this disorder (and who therefore has neurofibromatosis), Nn, and one parent is homozygous for the normal gene, nn. The heterozygous parent would have a 50 percent chance of passing the dominant allele for this disorder to their offspring, and the homozygous parent would always pass the normal allele. Therefore, four possible offspring genotypes are equally likely to occur: Nn, Nn, nn, and nn. That is, every child of this couple would have a 50 percent chance of inheriting neurofibromatosis. This inheritance pattern is shown in Figure 1, in a form called a Punnett square, named after its creator, the British geneticist Reginald Punnett.

Other genetic diseases that are inherited in this pattern are achondroplastic dwarfism, Marfan syndrome, and Huntington’s disease. Because autosomal dominant disorders are expressed by the presence of just one gene, an individual with the disorder will know that they have at least one faulty gene. The expression of the disease may manifest later in life, after the childbearing years, which is the case in Huntington’s disease (discussed in more detail later in this section).
When a genetic disorder is inherited in an autosomal recessive pattern, the disorder corresponds to the recessive phenotype. Heterozygous individuals will not display symptoms of this disorder, because their unaffected gene will compensate. Such an individual is called a carrier. Carriers for an autosomal recessive disorder may never know their genotype unless they have a child with the disorder.

An example of an autosomal recessive disorder is cystic fibrosis (CF), which we introduced earlier. CF is characterized by the chronic accumulation of a thick, tenacious mucus in the lungs and digestive tract. Decades ago, children with CF rarely lived to adulthood. With advances in medical technology, the average lifespan in developed countries has increased into middle adulthood. CF is a relatively common disorder that occurs in approximately 30,000 people in the United States. A child born to two CF carriers would have a 25 percent chance of inheriting the disease. This is the same 3:1 dominant:recessive ratio that Mendel observed in his pea plants would apply here. The pattern is shown in Figure 2, using a diagram that tracks the likely incidence of an autosomal recessive disorder on the basis of parental genotypes.

On the other hand, a child born to a CF carrier and someone with two unaffected alleles would have a 0 percent probability of inheriting CF, but would have a 50 percent chance of being a carrier. Other examples of autosome recessive genetic illnesses include the blood disorder sickle-cell anemia, the fatal neurological disorder Tay–Sachs disease, and the metabolic disorder phenylketonuria.
An X-linked transmission pattern involves genes located on the X chromosome of the 23rd pair (Figure 3). Recall that a male has one X and one Y chromosome. When a male transmits a Y chromosome, the child is male, and when a male parent transmits an X chromosome, the child is female. A female can transmit only an X chromosome, as both her sex chromosomes are X chromosomes.

When an abnormal allele for a gene that occurs on the X chromosome is dominant over the normal allele, the pattern is described as X-linked dominant. This is the case with vitamin D–resistant rickets: an affected male would pass the disease gene to all of the female offspring, but none of the male offspring, because the male transmits only the Y chromosome to male offspring (see Figure 3a). If it is the female parent who is affected, all of the offspring—male or female—would have a 50 percent chance of inheriting the disorder because the female parent can only pass an X chromosome on to children (see Figure 3b). For an affected female, the inheritance pattern would be identical to that of an autosomal dominant inheritance pattern in which one parent is heterozygous and the other is homozygous for the normal gene.

X-linked recessive inheritance is much more common because females can be carriers of the disease yet still have a normal phenotype. Diseases transmitted by X-linked recessive inheritance include color blindness, the blood-clotting disorder hemophilia, and some forms of muscular dystrophy. For an example of X-linked recessive inheritance, consider parents in which the female is an unaffected carrier and the male is normal. None of the female offspring would have the disease because they receive a normal gene from their male parent. However, they have a 50 percent chance of receiving the disease gene from their female parent and becoming a carrier. In contrast, 50 percent of the male offspring would be affected (Figure 4).

With X-linked recessive diseases, males either have the disease or are genotypically normal—they cannot be carriers. Females, however, can be genotypically normal, a carrier who is phenotypically normal, or affected with the disease. A female can inherit the gene for an X-linked recessive illness when the female parent is a carrier or affected, or the male parent is affected. Female offspring will be affected by the disease only if they inherit an X-linked recessive gene from both parents. As you can imagine, X-linked recessive disorders affect many more males than females. For example, color blindness affects at least 1 in 20 males, but only about 1 in 400 females.
Not all genetic disorders are inherited in a dominant–recessive pattern. In incomplete dominance, the offspring express a heterozygous phenotype that is intermediate between one parent’s homozygous dominant trait and the other parent’s homozygous recessive trait. An example of this can be seen in snapdragons when red-flowered plants and white-flowered plants are crossed to produce pink-flowered plants. In humans, incomplete dominance occurs with one of the genes for hair texture. When one parent passes a curly hair allele (the incompletely dominant allele) and the other parent passes a straight-hair allele, the effect on the offspring will be intermediate, resulting in hair that is wavy.

Codominance is characterized by the equal, distinct, and simultaneous expression of both parents’ different alleles. This pattern differs from the intermediate, blended features seen in incomplete dominance. A classic example of codominance in humans is ABO blood type. People are blood type A if they have an allele for an enzyme that facilitates the production of surface antigen A on their erythrocytes. This allele is designated IA. In the same manner, people are blood type B if they express an enzyme for the production of surface antigen B. People who have alleles for both enzymes (IA and IB) produce both surface antigens A and B. As a result, they are blood type AB. Because the effect of both alleles (or enzymes) is observed, we say that the IA and IB alleles are codominant. There is also a third allele that determines blood type. This allele (i) produces a nonfunctional enzyme. People who have two i alleles do not produce either A or B surface antigens: they have type O blood. If a person has IA and i alleles, the person will have blood type A. Notice that it does not make any difference whether a person has two IA alleles or one IA and one i allele. In both cases, the person is blood type A. Because IA masks i, we say that IA is dominant to i. Table 1 summarizes the expression of blood type.

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.

OpenStax. (2022). Anatomy and Physiology 2e. Rice University. Retrieved June 15, 2023. ISBN-13: 978-1-711494-06-7 (Hardcover) ISBN-13: 978-1-711494-05-0 (Paperback) ISBN-13: 978-1-951693-42-8 (Digital). License: Attribution 4.0 International (CC BY 4.0). Access for free at openstax.org.

Inheritance pattern of an autosomal dominant disorder, such as neurofibromatosis, is shown in a Punnett square.

The inheritance pattern of an autosomal recessive disorder with two carrier parents reflects a 3:1 probability of expression among offspring. (credit: U.S. National Library of Medicine)

A chart of X-linked dominant inheritance patterns differs depending on which parent is affected with the disease. (credit: U.S. National Library of Medicine)

Given two parents in which the male is normal and the female is a carrier of an X-linked recessive disorder, a male offspring would have a 50 percent probability of being affected with the disorder, whereas female offspring would either be carriers or entirely unaffected. (credit: U.S. National Library of Medicine)

Blood typeGenotypePattern of inheritance
AIAIA or IAiIA is dominant to i
BIBIB or IBiIB is dominant to i
ABIAIBIA is co-dominant to IB
OiiTwo recessive alleles
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Dưới đây là video và các luyện tập (practice) của bài này. Nghe là một kĩ năng khó, đặc biệt là khi chúng ta chưa quen nội dung và chưa có nhạy cảm ngôn ngữ. Nhưng cứ đi thật chậm và đừng bỏ cuộc.
Xem video và cảm nhận nội dung bài. Bạn có thể thả trôi, cảm nhận dòng chảy ngôn ngữ và không nhất thiết phải hiểu toàn bộ bài. Bên dưới là script để bạn khái quát nội dụng và tra từ mới.
Script:
  1. There are two aspects to a person’s genetic makeup.
  2. 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.
  3. 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.
  4. 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.
  5. He articulated the principles of random segregation and independent assortment to account for the inheritance patterns he observed.
  6. Mendel’s factors are genes, with differing variants being referred to as alleles and those alleles being dominant or recessive in expression.
  7. Each parent passes one allele for every gene on to offspring, and offspring are equally likely to inherit any combination of allele pairs.
  8. When Mendel crossed heterozygous individuals, he repeatedly found a 3/1 dominant–recessive ratio.
  9. He correctly postulated that the expression of the recessive trait was masked in heterozygotes but would resurface in their offspring in a predictable manner.
  10. Human genetics focuses on identifying different alleles and understanding how they express themselves.
  11. 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.
  12. Patterns of inheritance in humans include autosomal dominance and recessiveness, X-linked dominance and recessiveness, incomplete dominance, codominance, and lethality.
  13. A change in the nucleotide sequence of DNA, which may or may not manifest in a phenotype, is called a mutation.
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