Module 28: Development and Inheritance

Lesson 9: Genetics: Mendel’s Theory of Inheritance

Di Truyền: Lý Thuyết Di Truyền Của Mendel

Nội dung bài học:
Mỗi bài học (lesson) bao gồm 4 phần chính: Thuật ngữ, Luyện Đọc, Luyện Nghe, và Bàn Luận.
Sử dụng tính năng:
Bôi hoặc nhấp đôi vào từ, sau đó ấn vào biểu tượng để tra nghĩa từ đó. Khi bạn đưa chuột đến câu (hoặc khi nhấp vào câu trên màn hình điện thoại), gợi ý về cách hiểu câu đó sẽ hiện lên. Cuối cùng, bạn có thể đánh dấu hoàn thành toàn bộ bài học bằng cách ấn vào nút “Hoàn Thành” ở cuối trang.
Đăng ký và đăng nhập
Bạn cần đăng ký và đăng nhập vào tài khoản để lưu quá trình học.
Xem hướng dẫn đầy đủ
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
Nội dung này đang được cập nhật.
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.
Our contemporary understanding of genetics rests on the work of a nineteenth-century monk. Working in the mid-1800s, long before anyone knew about genes or chromosomes, Gregor Mendel discovered that garden peas transmit their physical characteristics to subsequent generations in a discrete and predictable fashion. When he mated, or crossed, two pure-breeding pea plants that differed by a certain characteristic, the first-generation offspring all looked like one of the parents. For instance, when he crossed tall and dwarf pure-breeding pea plants, all of the offspring were tall. Mendel called tallness dominant because it was expressed in offspring when it was present in a purebred parent. He called dwarfism recessive because it was masked in the offspring if one of the purebred parents possessed the dominant characteristic. Note that tallness and dwarfism are variations on the characteristic of height. Mendel called such a variation a trait. We now know that these traits are the expression of different alleles of the gene encoding height.

Mendel performed thousands of crosses in pea plants with differing traits for a variety of characteristics. And he repeatedly came up with the same results—among the traits he studied, one was always dominant, and the other was always recessive. (Remember, however, that this dominant–recessive relationship between alleles is not always the case; some alleles are codominant, and sometimes dominance is incomplete.) Using his understanding of dominant and recessive traits, Mendel tested whether a recessive trait could be lost altogether in a pea lineage or whether it would resurface in a later generation. By crossing the second-generation offspring of purebred parents with each other, he showed that the latter was true: recessive traits reappeared in third-generation plants in a ratio of 3:1 (three offspring having the dominant trait and one having the recessive trait). Mendel then proposed that characteristics such as height were determined by heritable “factors” that were transmitted, one from each parent, and inherited in pairs by offspring.

In the language of genetics, Mendel’s theory applied to humans says that if an individual receives two dominant alleles, one from each parent, the individual’s phenotype will express the dominant trait. If an individual receives two recessive alleles, then the recessive trait will be expressed in the phenotype. Individuals who have two identical alleles for a given gene, whether dominant or recessive, are said to be homozygous for that gene (homo- = “same”). Conversely, an individual who has one dominant allele and one recessive allele is said to be heterozygous for that gene (hetero- = “different” or “other”). In this case, the dominant trait will be expressed, and the individual will be phenotypically identical to an individual who possesses two dominant alleles for the trait.

It is common practice in genetics to use capital and lowercase letters to represent dominant and recessive alleles. Using Mendel’s pea plants as an example, if a tall pea plant is homozygous, it will possess two tall alleles (TT). A dwarf pea plant must be homozygous because its dwarfism can only be expressed when two recessive alleles are present (tt). A heterozygous pea plant (Tt) would be tall and phenotypically indistinguishable from a tall homozygous pea plant because of the dominant tall allele. Mendel deduced that a 3:1 ratio of dominant to recessive would be produced by the random segregation of heritable factors (genes) when crossing two heterozygous pea plants. In other words, for any given gene, parents are equally likely to pass down either one of their alleles to their offspring in a haploid gamete, and the result will be expressed in a dominant–recessive pattern if both parents are heterozygous for the trait.

Because of the random segregation of gametes, the laws of chance and probability come into play when predicting the likelihood of a given phenotype. Consider a cross between an individual with two dominant alleles for a trait (AA) and an individual with two recessive alleles for the same trait (aa). All of the parental gametes from the dominant individual would be A, and all of the parental gametes from the recessive individual would be a (Figure 1). All of the offspring of that second generation, inheriting one allele from each parent, would have the genotype Aa, and the probability of expressing the phenotype of the dominant allele would be 4 out of 4, or 100 percent.

This seems simple enough, but the inheritance pattern gets interesting when the second-generation Aa individuals are crossed. In this generation, 50 percent of each parent’s gametes are A and the other 50 percent are a. By Mendel’s principle of random segregation, the possible combinations of gametes that the offspring can receive are AA, Aa, aA (which is the same as Aa), and aa. Because segregation and fertilization are random, each offspring has a 25 percent chance of receiving any of these combinations. Therefore, if an Aa × Aa cross were performed 1000 times, approximately 250 (25 percent) of the offspring would be AA; 500 (50 percent) would be Aa (that is, Aa plus aA); and 250 (25 percent) would be aa. The genotypic ratio for this inheritance pattern is 1:2:1. However, we have already established that AA and Aa (and aA) individuals all express the dominant trait (i.e., share the same phenotype), and can therefore be combined into one group. The result is Mendel’s third-generation phenotype ratio of 3:1.

Mendel’s observation of pea plants also included many crosses that involved multiple traits, which prompted him to formulate the principle of independent assortment. The law states that the members of one pair of genes (alleles) from a parent will sort independently from other pairs of genes during the formation of gametes. Applied to pea plants, that means that the alleles associated with the different traits of the plant, such as color, height, or seed type, will sort independently of one another. This holds true except when two alleles happen to be located close to one other on the same chromosome. Independent assortment provides for a great degree of diversity in offspring.

Mendelian genetics represent the fundamentals of inheritance, but there are two important qualifiers to consider when applying Mendel’s findings to inheritance studies in humans. First, as we’ve already noted, not all genes are inherited in a dominant–recessive pattern. Although all diploid individuals have two alleles for every gene, allele pairs may interact to create several types of inheritance patterns, including incomplete dominance and codominance.

Secondly, Mendel performed his studies using thousands of pea plants. He was able to identify a 3:1 phenotypic ratio in second-generation offspring because his large sample size overcame the influence of variability resulting from chance. In contrast, no human couple has ever had thousands of children. If we know that parents are both heterozygous for a recessive genetic disorder, we would predict that one in every four of their children would be affected by the disease. In real life, however, the influence of chance could change that ratio significantly. For example, if parents are both heterozygous for cystic fibrosis, a recessive genetic disorder that is expressed only when the individual has two defective alleles, we would expect one in four of their children to have cystic fibrosis. However, it is entirely possible for them to have seven children, none of whom is affected, or for them to have two children, both of whom are affected. For each individual child, the presence or absence of a single gene disorder depends on which alleles that child inherits from their parents.

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.

In the formation of gametes, it is equally likely that either one of a pair alleles from one parent will be passed on to the offspring. This figure follows the possible combinations of alleles through two generations following a first-generation cross of homozygous dominant and homozygous recessive parents. The recessive phenotype, which is masked in the second generation, has a 1 in 4, or 25 percent, chance of reappearing in the third generation.

Nội dung này đang được cập nhật.
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.
Bật video, nghe và điền từ vào chỗ trống.
Dưới đây là phần bàn luận. Bạn có thể tự do đặt câu hỏi, bổ sung kiến thức, và chia sẻ trải nghiệm của mình.
Subscribe
Notify of

0 Comments
Inline Feedbacks
View all comments

Ấn vào ô bên dưới để đánh dấu bạn đã hoàn thành bài học này

Hoàn Thành

Quá dữ! Tiếp tục duy trì phong độ nhé!

Đã Hoàn Thành