758 CYSTIC FIBROSIS (CF) IN A LARGE KINDRED

Abstract

Consanguineous matings increase the chance for the appearance of homozygous autosomal recessive disease. When the frequency of a recessive gene in the population is high, as with CF, the finding of consanguinity among the parents need not be common. There have been few reports of consanguinity in CF families.

In four families, 6 of 21 children with documented CF can trace their roots back 6 and 7 generations to a common ancestor who was born in 1789 in Lorraine, France. Since 1833 when this patriarch came to the U.S. there have been over 5,000 descendants. Most have lived in upstate New York.

The parents of the CF proband are distant cousins (4 and 5 generations removed) via two lines of descent.

Two other CF children in a second family and one in a third family are cousins. They are also second cousins to the proband. Each parent pair contains a sibling descended from the patriarch via a second line of descent. The opposite spouses, not of the same lineage, are also siblings.

Two other CF children in a fourth family are related to the other CF individuals via a third line of descent.

The inherited nature of CF is evidenced by;(1)four CF families with common ancestry, and (2)brothers and sisters having children with CF. Autosomal recessive inheritance is evidenced by; (1) consanguinity in parents of the proband, (2) first cousins with CF, and (3)a 29% CF incidence when the expected incidence is 25%.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD