Introduction to Genetics for the Childbearing Family

Basic genetics

All genetic material is carried on strands of DNA

known as chromosomes
2 pairs of 23 chromosomes = 46

22 pairs of autosomes (non-sex)

1 pair of sex chromosomes (XX or XY)

Female (XX) always gives X

Male (XY) can give X or Y, determining sex of
offspring

Normal female karyotype Normal male karyotype

Karyotype of male with Down Syndrome (Note the 3 chromosomes on #21= TRIsomy 21)
 Introduction to Genetics for the Childbearing Family

Human Genome Project – http://www.cdc.gov/genomics/

Outcomes:
 Humanoids are 99.9% identical at the DNA level
 ~ 30,000-40,000 genes make up the human genome
 >100 genes involved in diseases have been identified
 Currently genetic tests for > 70 inherited diseases

Definitions

Genotype: what you are made of  Karyotype is the pictorial analysis

 Chromosomes Phenotype: what you look like
 Bb  Observable expression of genes in an
individual, ie brown hair, blue eyes, etc.

Penetrance Expression (individual variability)

 Strength of gene (statistical variability) - ie  How penetrant this particular gene actually
95% penetrance means 95% will get it, 5% was, ie either it is expressed, or it isn’t
will not

Every pregnancy has a 3%-5% chance of resulting in an infant with a birth defect, chromosome
abnormality, genetic disease, or developmental disability.

Chromosome Abnormalities: Autosomes

Euploidy: correct # of chromosomes

Aneuploidy: incorrect # of chromosomes - Leading cause of pregnancy loss
 Monosomies (45 chromosomes) - 45X, Turner Syndrome in females
 Trisomies (47 chromosomes) - Trisomy 21: Down’s Syndrome

Chromosomal Problems – Autosomal Dominant

Autosomal dominant disorders (50% in offspring with 1 affected parent)

Equally affect both males and females
Examples: Marfan Syndrome or Huntington Disease
 Introduction to Genetics for the Childbearing Family

Chromosomal Problems – Autosomal Recessive

Characterized by both parents being carriers (25% with disease, 25% unaffected, 50% carrier)

Autosomal recessive disorders commonly assessed for in pregnancy:

 Cystic fibrosis
 Sickle cell anemia
 Tay Sachs
 Most metabolic disorders (PKU, etc.)

Chromosomal Problems - X-linked Recessive

Effects are limited to males

Males cannot pass to sons – by definition, they are giving Y, and this is X-linked
50% chance mother will pass gene to her sons
50% chance her daughters will be carriers
100% chance that daughters of affected men will be carriers

Chromosomal Problems – Multifactorial Defects

Neural tube defects

Cleft lip or palate
Congenital hip dysplasia
Pyloric stenosis