The embryonic genome allowed us to perform a genomewide diagnosis of
mendelian disorders, including 83 common
mendelian disorders in the clinic involving 384 genes (Fig.
Among
Mendelian disorders, four types are recognizable: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.
Screening for carriers of
Mendelian disorders has traditionally focused on a limited number of diseases, as determined by the parents' ethnicity and race.
Chromosomal microarrays currently in development are more accurate than karyotypes, and should soon be able to detect many common
Mendelian disorders, Dr.
She describes changes and repair at the molecular DNA level, Mendelian inheritance, molecular explanations for unexpected phenotypes in
Mendelian disorders, cancer genetics, developmental genetics, the role of genetics in complex diseases, gene therapy, and the new field of individualized medicine instigated by genetics.
Many
Mendelian disorders such as cystic fibrosis are caused by mutations in a single gene, whereas other inherited disorders, such as X-Linked Intellectual Disability (XLID), can have a significant number of underlying causative genes.
In rare cases, the source of the genetic contribution to the effects of smoking is clear--single-gene
Mendelian disorders such as [alpha.sub.1]-antitrypsin deficiency show a very strong gene-environment interaction.
Gene pooling has given rise to increased susceptibility to certain rare
Mendelian disorders among such groups as the Amish, the Ashkenazi Jews, the French Canadians, and the Afrikaners.
Some of the early success stories with our technology include the first demonstration that WGS in a nuclear family could determine the genetic underpinnings of
mendelian disorders (2) and furthering the understanding of what causes cancer (3, 4).
Another 43% have been for structural abnormalities, particularly of the central nervous system, and 4% were for
mendelian disorders. The remaining 3% were for other indications such as severe oligohydramnios.
These tests, which are performed in CLIA-certified laboratories, are mainly for
mendelian disorders with well-established causal relationships between genes and diseases.