TABLE 3-1 Online Mendelian Inheritance in Man (OMIM) Statistics (as of May 15, 2006), Number of Entries

 

Autosomal

X-Linked

Y-Linked

Mitochondrial

Total

Gene with known sequence

10,215

472

48

37

10,772

Gene with known sequence and phenotype

349

31

0

0

380

Phenotype description molecular basis known

1,710

153

2

26

1,891

Mendelian phenotype or locus, molecular basis unknown

1,384

134

4

0

1,522

Other, mainly phenotypes with suspected Mendelian basis

2,065

145

2

0

2,212

Total

15,723

9,353

56

63

16,777

SOURCE: OMIM, www.ncbi.nlm.nih.gov/Omim/mimstats.html, accessed May 15, 2006.

sequence of the joint effects of many genes. Each of these approaches will be discussed below.

In general, diseases with simple Mendelian patterns of inheritance tend to be relatively uncommon or frequently rare, with early ages of onset, such as phenylketonuria, sickle cell anemia, Tay-Sachs disease, and cystic fibrosis. In addition, some of these genes have been associated with extreme forms of common diseases, such as familial hypercholesterolemia, which is caused by mutations in the low-density lipoprotein (LDL) receptor that predispose individuals to early onset of heart disease (Brown and Goldstein, 1981).

Another example of Mendelian inheritance is familial forms of breast cancer associated with mutations in the BRCA1 and BRCA2 genes that predispose women to early onset breast cancer and often ovarian cancer. The genes identified have mutations that often are highly penetrant—that is, the probability of developing the disease in someone carrying the disease susceptibility genotype is relatively high (greater than 50 percent). These genetic diseases often exhibit a genetic phenomenon known as allelic heterogeneity, in which multiple mutations within the same gene (i.e., alleles) are found to be associated with the same disease. This allelic heterogeneity



The National Academies | 500 Fifth St. N.W. | Washington, D.C. 20001
Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement