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This is for Heredity and society | SOC - Gender and Society, Quizzes of Sociology of Gender

Class: SOC - Gender and Society; Subject: Sociology; University: Tulane University of Louisiana; Term: Forever 1989;

Typology: Quizzes

2013/2014

Uploaded on 09/14/2014

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TERM 1
Human cells: how many chromosomes?
DEFINITION 1
a set of 46 chromosomes (23 pairs).- Sex chromosomes (1
pair) determine sex in humansFemales: XXMales: XY
AutosomesOther 22 pairsof chromosomes
TERM 2
Fertilization
DEFINITION 2
Fusion of sperm (X or Y) and egg (only X) .fertilization is the
fusion of gametes to initiate the development of a new
individual organism.
TERM 3
fertilized egg
DEFINITION 3
zygote: XX or XYA zygote, is the initial cell formed when two
gamete cells are joined by means of sexual reproduction. If
the X-bearing sperm joins with the egg, the result is a female
If a Y-bearing sperm joins with the egg, the result is a male
TERM 4
Why a Male is a Male?
DEFINITION 4
Anyone who carries a Y chromosome is almost alwaysmale,
no matter how many X chromosomes he may have.Female
chromosome is (46, XX), and male (46, XY).~ Does the
number of X chromosome determine the sex? No~A person
with only one X chromosome (45, X)? female~Two X
chromosome and one Y chromosome (47, XXY)? male
TERM 5
Sperm Sorting for Sex
Selection
DEFINITION 5
Sperm sorted by laser based on how brightly they reflect
fluorescent light X chromosome bigger than Y chromosome
so they reflect more lightIsolated sperm can be used in GIFT
or IVFuses Fluorescence-activated cell sorting (FACS)
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Human cells: how many chromosomes?

a set of 46 chromosomes (23 pairs).- Sex chromosomes ( pair) determine sex in humansFemales: XXMales: XY AutosomesOther 22 pairsof chromosomes TERM 2

Fertilization

DEFINITION 2 Fusion of sperm (X or Y) and egg (only X) .fertilization is the fusion of gametes to initiate the development of a new individual organism. TERM 3

fertilized egg

DEFINITION 3 zygote: XX or XYA zygote, is the initial cell formed when two gamete cells are joined by means of sexual reproduction. If the X-bearing sperm joins with the egg, the result is a female If a Y-bearing sperm joins with the egg, the result is a male TERM 4

Why a Male is a Male?

DEFINITION 4 Anyone who carries a Y chromosome is almost alwaysmale, no matter how many X chromosomes he may have.Female chromosome is (46, XX), and male (46, XY).~ Does the number of X chromosome determine the sex? No~A person with only one X chromosome (45, X)? female~Two X chromosome and one Y chromosome (47, XXY)? male TERM 5

Sperm Sorting for Sex

Selection

DEFINITION 5 Sperm sorted by laser based on how brightly they reflect fluorescent light X chromosome bigger than Y chromosome so they reflect more lightIsolated sperm can be used in GIFT or IVFuses Fluorescence-activated cell sorting (FACS)

FACS

Fluorescence-activated cell sorting TERM 7

GIFT

DEFINITION 7 Gamete Intra-Fallopian Transfer Sperm and eggs placed in uterus directly Cost $4,000 to $6, TERM 8

IVF

DEFINITION 8 In vitro fertilization. Fertilized with eggs in a dish and culture More costSuccess rate: ~90% for female births~73% for male births TERM 9

PGD

DEFINITION 9 Preimplantation Genetic DiagnosisWoman given hormone treatments, Multiple eggs surgically removed, Eggs placed in a dish with sperm for in vitro fertilization (IVF), Embryos develop to the 8-cell stage in the incubator, then PGD is performed.Success rate: ~100% cost $12,000 to $15,0001. Single cell (blastomere) removed from each 8-cell embryo2. Chromosomes analyzed to determine the sex3. Embryos of the desired sex placed into the mothers uterus4. Unused embryos: Frozen for later use Donation to other couples or for research TERM 10

where do egg and sperm

fuse?

DEFINITION 10 Fusion of sperm and egg generally occurs in fallopian tubeform a zygote with 46 chromosomes (diploid, 2n)Usually one sperm enters the egg Chemical changes prevent more than one sperm fromentering the egg

Chorion

Chorion produces human chorionic gonadotropin(hCG) Function of hCG Prevent the lining of the uterus from breakdown Prevent the embryo from expelling hCG in urine used for home pregnancy test Declines after 8 weeks TERM 17

1st Trimester

DEFINITION 17 First Trimester (fertilization to 13 weeks): Weeks 5/6: Most of organ systems formed; Limbs develop Week 7: Baby's head develops Week 8: Baby's eyes are visible Week 9: Baby's toes form TERM 18

2nd Trimester

DEFINITION 18 Second Trimester (14 25/26 weeks):Week 15: Baby's skeleton develops bonesWeek 16: Baby can make sucking motionsWeek 18: Baby begins to hearHeartbeat can be detected with a stethoscope Organ maturation 4th month, mother can feel movement End of the 2nd trimester, fetus~ 700 grams (27 oz.) 30-40 cm (~13) TERM 19

Third Trimester

DEFINITION 19 Rapid growth Fetus doubles in size during the last 8 weeks Circulatory system and respiratory system matureChances for survival outside the uterus increaserapidly(25 38 wks) TERM 20

Formation of reproductive organs controlled

by interaction between:

DEFINITION 20 Gene function Maternal environment: Hormones

Sex Determination 3

Stages

Sex can be defined at several levels:1. Chromosomal sex XY or XX2. Gonadal sex internal organs (testes or ovary)3. Phenotypic sex external appearance In rare case, they are not same. TERM 22

First Stage of Sex

Development

DEFINITION 22 Chromosomal sex begins at fertilization Zygote has either an XX or XY Sex organs do not develop until week 7 or 8o Gonads and ducts - nonspecific TERM 23

Second Stage of Sex

Formation

DEFINITION 23 The second stage = gonadal sex Expression of a gene (SRY) on the Y chromosome causes the gonads to become testes Testes cells secrete testosterone Male sex hormone Control the development of the external and internalmale reproductive organs XX chromosome (no Y) No SRY no testes no testosterone The gonad develops as an ovary Female development is default TERM 24

Third Stage of Sex

Formation

DEFINITION 24 The third stage = phenotypic sex Fetus can be identified by external genitalso Males: penis and scrotumo Females: clitoris, labia minora, and labia majora TERM 25

Complete androgen insensitivity Syndrome

(CAIS)

DEFINITION 25 XY individuals with CAIS: SRY gene expressed normally Gonads (testes) produce testosterone normally Mutation of androgen receptor (AR) gene Receptor for testosterone or hormones derived fromtestosterone is defect Cells in the gonads and duct cannot respond tohormones

Seminal

vesicles

male glands provide fructose (a sugar) - energy source provide prostaglandins - chemical messengers stimulatingcontractions of female reproductive system to assist in spermmovement TERM 32

Prostate

DEFINITION 32 male glands secretes a milky, alkaline fluid - neutralizes acidic vaginalsecretions and enhances sperm viability TERM 33

Bulbourethral glands

DEFINITION 33 male glandssecrete a mucus-like substance - provides lubrication TERM 34

sperm production

DEFINITION 34 Produced by spermatogenesis in the seminiferous tubules. Move to epididymis for storage Muscles move sperm to the vas deferens when amale is sexually aroused Move to the urethra Expelled out by muscular contractions duringejaculation (25 to 250 million sperm) TERM 35

Vasectomy

DEFINITION 35 Surgical procedure for malesterilization (birth control) Vas deferens cut and closed off The secretions of three glands makeup the ejaculate Sperm absent from the ejaculate Sperm still produced but absorbed

Spermatogenesis

Process that sperm form Occurs in seminiferous tubules Begins at puberty and continues throughout life Germ cells celled spermatogonia (2n = 46) divideby mitosis to form spermatocytes Spermatocytes (2n = 46) undergo meiosis toproduce intermediate cells, spermatids (n = 23) Spermatids form mature sperm (n) with tails TERM 37

Fallopian tubes (Oviduct)

DEFINITION 37 Finger-like projections surround the ovary Fertilization occurs Open into the uterus TERM 38

Uterus

DEFINITION 38 Hollow pear-shaped muscular organ Implantation of fertilized egg (blastocyst) Outer thick layer: myometrium Inner uterine tissue: endometrium The innermost layers are shed at menstruation,if fertilization has not occurred TERM 39

Cervix

DEFINITION 39 Lower neck of the uterus Opens into the vagina receives the penis during intercourse serves as the birth canal TERM 40

Egg Production

DEFINITION 40 OogenesisControlled by cycle of hormones: GnRH, LH and FSHFollicles consist of a developing oocyte surrounded by an outer layer follicle cells Oogonia (2n = 46) divide by mitosis to form primaryoocytes during embryonic development Primary oocytes (2n) begin meiosis I around birthand then stop (first arrest) At puberty, meiotic division of primary oocytescompletes to form secondary oocytes (n) Secondary oocytes arrested again in meiosis II After ovulation, 2nd meiosis completed by fertilization

Hormone levels

Estrogen: Produced by follicle cells Induced by LH and FSH Level up before ovulation triggers ovulation No, too little, or irregular estrogen level No egg release from ovary TERM 47

Absent or Damaged Ovaries

DEFINITION 47 Surgical removal (ovariectomy) Damage by other surgeries, inflammation, radiation,or infections Ovarian cysts can prevent egg maturation or release Some genetic conditionscause a female baby to beborn without ovaries TERM 48

Premature Menopause

DEFINITION 48 It is rare Some women stop menstruation and entermenopause at an early age This condition more in women: who are extremely athletic who have had low body weight for many years TERM 49

Secondary Amenorrhea

DEFINITION 49 Secondary amenorrhea woman has been having normal cyclesbut stops getting her periods for 6 monthsor longer caused by hormonal disturbances:stress, low body weight, nutrition, andexcessive physical activities reversible condition TERM 50

Fallopian Tube Blockage

DEFINITION 50 15% of female infertility Sperm and egg cannot connect Causes: Infections by sexually transmitted bacteria and virus inflammation and scarring closing fallopian tubes Appendicitis (inflammation of the appendix),colitis (inflammation of the large intestine) blockage of fallopian tubes Adhesions by previous surgery

Endometriosis

A problem with the inner lining of uterine wall - abnormalor too much/too little material along the endometrium Cells from the lining of the uterus grow in other areas ofthe body cause pain, irregular bleeding, and infertility The cause is unknown Not affect fertilization Leading implantation problemor detachment of embryo fromuterine wall miscarriage TERM 52

Causes of Infertility in Males

DEFINITION 52 One in 25 men are infertile Easier to detect, but often harder to treat Problems with sperm formation or spermthemselves: Low sperm count Low sperm motility No sperm Impotence (ED) TERM 53

Low Sperm Count (Oligospermia)

DEFINITION 53 Most common cause (50%) Less than 20 million per ejaculation Causes: genetic, environmental or habit Exposure to chemicals (lead, pesticide), radiation Drugs (marijuana) Diseases: mumps, diabetes Alcohol consumption Injury to the testes and undescended testes TERM 54

Low Sperm Count

DEFINITION 54 Sperm production is temperature sensitive: Laptop Hot tub Tight underwear High fat/red meat dietsAverage count per ejaculation: 280 million Normal concentration: at least 20 million/ml Average volume at ejaculation: 1.5 to 5 ml Hypospermia: less than 1.5 ml semen volume At least 60% of the spermatozoa should be alive andhave a normal shape (with normal motility) The average sperm count declined TERM 55

Sperm Shape and Motility

DEFINITION 55 Low sperm motility (Asthenozoospermia) Causes: defects in structure No tail, short tail, coiled tail

Egg donor

surrogacy

The surrogate contributes eggs which are fertilized byartificial insemination using sperm of infertile couplesmale partner Surrogate mom carries the embryos to term andsurrenders the baby after term. TERM 62

Gestation surrogacy

DEFINITION 62 The surrogate mom carries the embryo to term but theegg and sperm are from two other people, who maybe unrelated to the infertile couple. TERM 63

Chromosomes

DEFINITION 63 Structure: p arm short q arm long Centromere Telomeres shortenwith each cell division Cytogenetic bands TERM 64

Homologous chromosomes

DEFINITION 64 A homologous chromosomes is a set of one maternal chromosome and one paternal chromosome that pair up with each other inside a cell during meiosis. Homologous chromosome pairs separate to produceshaploid cells with one copy of each chromosome (n = 23) TERM 65

Stages of Meiosis I

DEFINITION 65 Interphase IProphase IMetaphase IAnaphase ITelophase ICytokinesis

Prophase I

As meiosis begin, chromosomes coil and shorted by condensation, and become visible under the microscope.Paired homologouschromosomes may exchange parts by crossing over (recombination) TERM 67

Metaphase I

DEFINITION 67 Paired chromosomes line up at the equator of the cell. Spindle fibers attach to the centromeres of each pair TERM 68

Telophase I

DEFINITION 68 Chromosome becomes uncoiled and nuclei reform TERM 69

Anaphase I

DEFINITION 69 Members of each homologous pair separate and move toward opposite poles of the cells TERM 70

Cytokinesis

DEFINITION 70 Cytoplasm divides resulting in formation of two cells. These cells have half the number of chromosomes of the original cells and are called haploid cells (n, 2c).

Nondisjunction

Unequal separation of chromosomes during meiosis I or II Results in gametes with an abnormal chromosome number normal daughter cells 23 chromosomes extra (n+1, 24) chromosome missing (n-1, 22) chromosome Fertilization by abnormal gametes resulting zygotes withabnormal chromosome number TERM 77

Aneuploidy

DEFINITION 77 variations in chromosome number that involve one or more chromosomes.Most aneuploidy from errors in meiosis. TERM 78

Amniocentesis

DEFINITION 78 Draw about 20 ml of amniotic fluid using a needle with assistant of ultrasound to avoid placenta and fetus damage Isolate fetal cells by centrifugation Chromosome analysis (karyotype) detect any abnormality or sex Protein analysis also possible to detect biochemical disorders Usually performed b/w 14 and 16 weeks of pregnancy Processing and analyzing takes about 7-14 days Risks associated with amniocentesis Miscarriage in 0.2-0.3% rate (1 in 300 to 500) TERM 79

Chorionic villus sampling (CVS)

DEFINITION 79 Fetal cells collected from the chorionic villi Inserting a thin flexible tube (catheter) t/r the vagina andcervix or a needle t/r abdomen into the placenta Ultrasound used to guide catheter (or needle) Can be performed earlier (10 to 12 weeks) thanamniocentesis ( to 16 weeks) Results come out fast (within a few days) Possible risks: cramps, infection, and rate of miscarriage(maybe higher than amniocentesis) TERM 80

Fetal Cell Sorting

DEFINITION 80 Fetal cells or free fetal DNA (ffDNA)are found in the maternal blood. These cells can be separated usingfluorescence- activated cell sorters(FACS). The fetal cells are karyotyped.

Euploid

normal two copies of each chromosome (2n, 46) TERM 82

Aneuploidy

DEFINITION 82 abnormal condition of chromosomal number Gain of one chromosome (three copies of a chromosome) trisomy (2n + 1, 47): Down syndrome, Jacobs syndrome Loss of one chromosome (only one copy of a chromosome) monosomy (2n 1, 45): Turner syndrome TERM 83

Polyploidy

DEFINITION 83 multiple full sets of chromosomes Triploidy (3n, 69) Tetraploidy (4n, 92) Fertilization of an egg with two or more sperm (polyspermy) In human, this is rare and lethal TERM 84

Karyotype

DEFINITION 84 Display of chromosomes in pairs during mitotic metaphase After Giemsa staining, chromosomes are arranged by length,position of centromere, and band pattern Classic karyotype and Spectral karyotype TERM 85

Duplication

DEFINITION 85 parts of a chromosome are repeated

Trisomy 13: Patau Syndrome

(47,+13)1/15,000 live births Survival: 12 months Symptoms: facial malformation eye defect polydactyly extra digits heart defects (80%) severe defects in brain andnervous system TERM 92

Trisomy 18: Edwards Syndrome

DEFINITION 92 (47,+18) 1 in 11,000 in live birth 80% females Survival: 24 months Symptoms: retard development mental disabilities finger defects heart malformation Die from heart failure or pneumonia TERM 93

Trisomy 21: Down Syndrome

DEFINITION 93 (47,+21) 1 in 800 live births (depending onmothers age) Survival up to age 50 - only autosomal trisomy in which patients can survive into adulthood Childhood mental retardation and heart defects (40%) Wide, flat skulls; eyelid folds; large tongues; physical, mental, and development retardation May live rich, productive lives TERM 94

Risk Factor for

Trisomy?

DEFINITION 94 Maternal age - only known risk factor for Down syndrome andother autosomal aneuploidyOlder eggs may have higher risk of nondisjunction due to more chances to get damaged by environmental agents TERM 95

Down Syndrome by Robertsonian

Translocation

DEFINITION 95 5% DS caused by a Robertsonian translocation chromosome 21 attached to chromosome 14 or 15. If translocated chromosome inherited DS with normal number of chromosomes (46)

Monosomy in sex chromosomes

More common than in autosomes Not always lethal TERM 97

Monosomy in sex chromosomes

DEFINITION 97 Turner syndrome (45, X): monosomy of X chromosome Monosomy of Y chromosome (45, Y): always fatal,resulting in miscarriage TERM 98

Trisomy involving sex

chromosomes

DEFINITION 98 Klinefelter syndrome (47, XXY): extra X Jacobs syndrome (47, XYY): extra Y Triplo-X Aneuploidy (47, XXX): extra X TERM 99

Turner Syndrome

DEFINITION 99 (45,X) 1 in 10,000 female births Most cases (9599%) lead to miscarriage Survival to adulthood 75% paternal X is missing Symptoms (female): short stature poor breast development undeveloped ovaries: no menstruation normal intelligence TERM 100

Klinefelter Syndrome

DEFINITION 100 (47,XXY) 1 in 500-1,000 males births Survival to adulthood Symptoms (Male): Features do not develop until puberty usually sterile (small testes) female-like features (broad hips, lack of body hair, female-type nipples) may have learning disabilities