Reproductive Genetics I
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| 3 genetic concerns for infertility | 1.unrecognized disorders of sexual differentiation 2.Genetic conditions assoc w/ impaired fertility 3.genetic risks of reproductive technologies
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| Female infertility (lack of gonadal development) | 45,X mosaic; 47,XXX
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| Male infertility (lack of gonadal development) | 47,XXY; 46,XY/45/X
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| Female infertility (lack of gonadal support) | del Xpll; Fragile X premutation
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| Male infertility (lack of gonadal support) | DAZ deletion
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| Female infertility (effects on secondary sex characteristic) | late onset congenital adrenal hyperplasia
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| Male infertility (effects on secondary sex characteristic) | androgen sensitive (end organ resistance)- complete or mild
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| Karyotype abnormalities with azospermia and oligospermia | azospermia: 10-15%
oligospermia: 5%
normal population: <1%
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| Sex chromosome anomalies ________ with _________ sperm count | increase decreasing
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| unbalanced translocations | more common with oligospermia
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| Genetic conditions associated with infertility | Cystic Fibrosis, Fragile X, Myotonic dystrophy, Kennedy, Kartagener syndrome
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| Congenital bilateral absence of the vas deferens (CBAVD) | obstructive azoospermia
1-2% of infertile men
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| CBVAD w/ renal abnormalities | normal sweat chloride test, low rate of CF mutations
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| CFTR severe/severe mutations | classic CF: 87.8%
CBAVD: 0.5%
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| CFTR severe/mild mutations | classic CF: 11.3%
CBAVD: 87.9%
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| CFTR mild/mild mutations | classic CF: 0.9%
CBAVD: 11.6%
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| Fragile X assoc female infertility | 1/113-350 women with premutation (55-199)
premature ovarian failure (2-5% of all w/ POF)
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| Fragile X; risk of expansion highest at _____ | 90 (80-90)
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| Myotonic Dystrophy assoc infertility | male infertility (oligospermia due to sclerosis of seminiferous tubules)
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| Kennedy (SBMA) | X-linked form of motor neuron disease that affects adult men, onset mid 40s, slow progression
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| Kartagener syndrome (primary ciliary dyskinesia | can be AD/AR; affects both sexes; males: immotile cilia, females: fallopian tube motility
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| Intracytoplasmic sperm injection (ICSI) | circumvents natural sperm selection
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| Borderline premature ovarian failure treatment option | ovarian stimulation (w/ fragile x premut and X chrom abnormalities)
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| Assisted Reproductive Technologies (ART) birth defect risk | 30% increase
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| Assisted Reproductive Technologies (ART) birth defects | septal defects, cleft lip/palate, esophageal atresia, anorectal atresia
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| ART risk potential cause | impact on epigenetic mechanisms (imprinting)
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| ovarian dermoid | 46,XX maternal
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| trophoblastic disease (complete mole) | 46,XX paternal
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| Beckwith Wiedemann syndrome Sx | LGA, macroglossia, omphalocele
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| Beckwith Wiedemann syndrome cause | about 50% due to imprinting error on chr15
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| Six fold increase in ________ among children with BWS | ART
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| ART assoc BWS frequency | 1 in 4000 ART pregnancies
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| 23/24 ART assoc BWS show | loss of methylation at maternal 11p15.5 DMR
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| Imprinting defect 3X higher than control in ________ and ________ | subfertility, ART
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| 6 imprinted genes with aberrant _______________ following ART are linked to _________,_________, _______,and/or ________ | hypomethylation, adipocyte development, insulin signaling, obesity
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| ART children/teens at increased risk for | elevated bp, higher fasting glucose, elevated triglycerides, increased body fat composition
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| balanced translocations in >3 consecutive SABs | 9.2%
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| balanced translocations in newborn surveys | 0.2%
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| balanced translocations in habitual SAB couples | 3-4%
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| balanced translocations in infertile couples | 0.6%
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| balanced translocations in >10 IVF failed cycles | 3.2%
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| reciprical translocation resulting in abnormal conception (%) | 10-15%
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| robertsonian translocation resulting in abnormal conception (maternal origin) | 10-15%
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| robertsonian translocation resulting in abnormal conception (paternal origin) | 0-5%
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| PGD (preimplantation genetic testing) application | only for disorder in question; single gene disorders, adult onset disorders (cancer), isoimmunization, HLA compatibility
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| PGS for aneuploidy | may harm implantation rates
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| Human Teratogen Characteristics | 1.dose response relationship, 2.period of greatest sensitivity (classic malformations), 3.mechanism of action established in animal models, 4.biologic sense, 5.genetic susceptible group
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| Maternal Conditions of Concern for Teratogenicity | 1.Obesity (50-60% of women) 2.DM type1/2 (11% of women) 3.Alcohol use (7.6% of pregnant women, 1.4% binge, overall 51% and 15% binge)
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| Maternal obesity is linked with higher rates of ____________ | 1.neural tube defects, cardiac malformations, orafacial clefts, limb reduction, hydrocephaly, anorectal atresia
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| Maternal obesity increases the rate of ___________ at which BMI? | neural tube defects
BMI>40
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| Maternal obesity's assoc w/ congenital anomalies may be due to the following | folate deficiency: higher BMI = lower folate levels
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| Does increasing folate intake in obese women protects against NTDs? | only in <70kg
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| maternal diabetes assoc w/ higher risk of _____________ | 1.sacral agenesis 2.renal agenesis 3.hydrocephaly/MCA 4.cardiac/MCA 5.anencephaly
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| Gestational Diabetes Mellitus (GDM)present significant risk in (obese/nonobese) women. | obese
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| Type of maternal DM w/ greatest OR for congenital anomalies | pregestational DM > GDM (fasting hyperglycemia) > GDM (normal fasting glucose = no DM
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| Rate of Fetal Alcohol Exposure | 1% of births
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| Fetal Alcohol Exposure phenotypic effects | 1.growth retardation 2.microcephaly 3.specific pattern of craniofacial features 4.cognitive and behavioural dysfunction 5.other (VSD, vertebral defects, CNS malformations, hypoplaplastic nails)
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| Impact of alcohol ounces/day consumed during pregnancy | 0.5: reading; 1.5: IQ (5-7pts); 3: birth weight; 4: FAS
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| Alcohol as a teratogen | may have a genetic susceptiblity as women with same amt of exposure may present differently, but cotwins w/ same exposure have discordant phenotypes
Phenotypic effects is replicated in mice
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Created by:
amrs
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