Genetics Flashcards
What conditions are associated with low estriol?
Steroid sulfatase deficiency, Trisomy 21, and Smith-Lemli-Opitz synrdome
When do you perform FTS?
10-13.6 weeks CRL 38-45 mm - 84 mm
When do you perform 2nd trimester screening?
18-22.6 weeks
What are the types of 2nd trimester screening tests?
quad screen/serum integrated/stepwise sequential screen/contingent sequential screen
How does NIPT work?
Fetal component of cell free DNA is released into maternal circulation, primarily from placental cells undergoing apoptosis. Those cells are taken and analyzed by (1) massive parallel sequencing, (2) targeted massive parallel sequencing, or (3) by single nucleotide polymorphisms.
What is CF and how many mutations are there?
Cystic fibrosis is caused by mutations, or changes, in the CFTR gene. This gene provides the code that tells the body how to make the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The protein controls the salt and water balance in the lungs and other tissues. All people have two copies of the CFTR gene, and there must be mutations in both copies to cause CF. More than 1,700 mutations of the CFTR gene have been identified.
List AD conditions
Marfan BRCA 1/2 Neurofibromatosis Huntington's dx vWD PCKD-adult onset Achondroplasia Tuberous sclerosis
List AR conditions
CAH Tay Sachs PKU Thalassemia CF Galactosemia Mucopolysaccaridosis cleft lip
List X-linked recessive conditions
DI Hemophilia Duchenne's muscular dystrophy Becker's muscular dystrophy steroid sulfatase deficiency Agammaglobinema G6PD
List X-linked dominant conditions
vitamin-D resistant Rickett's X=linked hypophophatemia Alport syndrome Incontinenta pigmenti Goltz syndrome Aicardi syndrome Porphyria
List multifactorial conditions
NTD Endometriosis anencephaly spina bifida CHD mullerian agenesis diabetes, asthma, heart disease
What is advanced paternal age?
What is it associated with?
40 years and above
conditions with single base substitutions in the FGFR2, FGFR3, and RET genes, MEN2A, MEN2B
Pfeiffer syndrome Crouzon syndrome Apert syndrome achondroplasia thanatophoric dysplasia,
Neurofibromatosis
What is the difference between mendelian and multifactorial inheritance?
in classical mendelian inheritance, the phenotype is the consequence of one (dominant) or both (recessive) copies of a gene
multifactorial is the caused by mutations in more than one gene with a contribution from environmental factors
Karyotype used to be linked to inmates?
XYY
