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Homologous Chromosomes
Pairs of chromosomes carrying the same genes; one from each parent (23 pairs in humans).
Autosomes
Chromosomes 1–22; carry all traits except biological sex.
Sex Chromosomes
Chromosome pair 23; XX = female, XY = male.
Diploid (2n)
46 chromosomes; normal number in somatic (body) cells.
Haploid (n)
23 chromosomes; normal number in gametes (sperm and egg).
Gametes
Haploid sex cells produced by meiosis (sperm and ova).
Somatic Cells
Diploid body cells produced by mitosis.
Allele
Different form of a gene.
Locus
The specific location of a gene on a chromosome.
Meiosis
Type of cell division that produces four haploid gametes and reduces chromosome number by half.
Purpose of Meiosis
Produce gametes and maintain chromosome number after fertilization.
Where does meiosis occur?
Gonads (testes and ovaries).
Mitosis vs. Meiosis
Mitosis makes body cells; meiosis makes sex cells.
Homozygous
Two identical alleles (AA or aa).
Heterozygous
Two different alleles (Aa).
Dominant Allele
Masks the expression of a recessive allele; represented by a capital letter.
Recessive Allele
Expressed only when two recessive alleles are present; lowercase letter.
Genotype
Genetic makeup (AA, Aa, aa).
Phenotype
Physical expression of a trait.
Four Sources of Genetic Variation
Segregation, independent assortment, crossing over, random fertilization.
Segregation
Separation of homologous chromosomes during meiosis I.
Independent Assortment
Random distribution of chromosomes into gametes during meiosis.
Crossing Over
Exchange of DNA between homologous chromosomes during meiosis I.
Random Fertilization
Any sperm can fertilize any egg, increasing variation.
Punnett Square
Diagram used to predict offspring genotypes and phenotypes.
Monohybrid Cross
Cross involving one trait.
Aa × Aa Genotypic Ratio
1 AA : 2 Aa : 1 aa.
Aa × Aa Phenotypic Ratio
3 dominant : 1 recessive.
Dominant Inheritance
Only one dominant allele is needed for the trait to appear.
Recessive Inheritance
Requires two recessive alleles for the trait to appear.
Incomplete Dominance
Heterozygote shows an intermediate phenotype.
Codominance
Both alleles are fully expressed.
ABO Blood Type Alleles
IA, IB, i.
Type A Genotypes
IAIA or IAi.
Type B Genotypes
IBIB or IBi.
Type AB Genotype
IAIB.
Type O Genotype
ii.
Rh Positive
Dominant trait.
Rh Negative
Recessive trait.
Sex Determination
Father determines baby's sex by contributing either X or Y chromosome.
X-Linked Recessive Disorders
Hemophilia and red-green color blindness; more common in males.
Female Gonads
Ovaries.
Functions of Ovaries
Produce oocytes, estrogen, and progesterone.
Site of Fertilization
Ampulla of the uterine (fallopian) tube.
Fimbriae
Finger-like projections that sweep the oocyte into the uterine tube.
Functions of the Uterus
Receives, nourishes, and protects the developing embryo/fetus.
Endometrium
Inner uterine lining; implantation occurs here; shed during menstruation.
Myometrium
Thick smooth muscle layer responsible for labor contractions.
Perimetrium
Outermost serous layer of the uterus.
Cervix
Inferior opening of the uterus into the vagina.
Vagina
Birth canal, passage for menstrual flow, and copulatory organ.
Vulva
External female genitalia.
Bartholin's Glands
Produce mucus for lubrication.
GnRH
Released by the hypothalamus; stimulates FSH and LH release.
FSH (Female)
Stimulates follicle development and estrogen production.
LH (Female)
Triggers ovulation and corpus luteum formation.
Estrogen
Builds the endometrium and develops female secondary sex characteristics.
Progesterone
Prepares and maintains the uterus for pregnancy.
hCG
Produced by the placenta; maintains the corpus luteum and is detected by pregnancy tests.
Ovarian Cycle Phases
Follicular → Ovulation → Luteal.
Follicular Phase
Days 1–14; follicles develop and estrogen rises.
Ovulation
Occurs around Day 14; triggered by LH surge.
Luteal Phase
Days 14–28; corpus luteum secretes progesterone.
Menstrual Cycle Phases
Menstrual → Proliferative → Secretory.
Menstrual Phase
Days 1–5; shedding of the endometrium.
Proliferative Phase
Days 6–14; estrogen rebuilds the endometrium.
Secretory Phase
Days 15–28; progesterone prepares uterus for implantation.
Male Gonads
Testes.
Functions of Testes
Produce sperm and testosterone.
Seminiferous Tubules
Site of spermatogenesis.
Leydig Cells
Produce testosterone.
Sertoli (Sustentacular) Cells
Support developing sperm, form the blood-testis barrier, and secrete inhibin.
Blood-Testis Barrier
Protects developing sperm from the immune system.
Epididymis
Site where sperm mature and are stored.
Vas (Ductus) Deferens
Transports sperm from epididymis.
Ejaculatory Duct
Formed by vas deferens and seminal vesicle duct; empties into urethra.
Urethra (Male)
Passageway for urine and semen.
Seminal Vesicles
Produce about 70% of semen; rich in fructose.
Prostate Gland
Adds milky fluid that activates sperm.
Bulbourethral Glands
Produce lubricating mucus and neutralize acidic urine.
FSH (Male)
Acts on Sertoli cells to stimulate spermatogenesis.
LH (Male)
Acts on Leydig cells to stimulate testosterone production.
Testosterone
Promotes spermatogenesis and male secondary sex characteristics.
Inhibin
Inhibits FSH release.
Spermatogenesis
Production of sperm in seminiferous tubules; begins at puberty.
One Primary Spermatocyte Produces
4 sperm cells.
Spermiogenesis
Conversion of spermatids into mature sperm.
Structure of Sperm
Head (DNA/acrosome), midpiece (mitochondria), tail (flagellum).
Normal Semen Volume
Approximately 2–5 mL per ejaculation.
Normal Sperm Count
20–150 million sperm per mL.
Capacitation
Process that enables sperm to fertilize an egg.
Acrosome Reaction
Enzymes digest the zona pellucida so sperm can enter the oocyte.
Polyspermy
Fertilization by more than one sperm; prevented by fast and slow blocks.
Zygote
Single diploid cell formed after fertilization.
Order of Early Development
Zygote → Morula → Blastocyst → Implantation → Embryo → Fetus.
Morula
Solid ball of cells formed around days 3–4.
Blastocyst
Hollow ball of cells that implants into the uterus.
Implantation
Blastocyst embeds into the endometrium about 7 days after fertilization.
Embryo
Developing offspring from fertilization through week 8.
Fetus
Developing offspring from week 9 until birth.