BACKGROUND Mycobacterium ulcerans disease (Buruli ulcer) is the most widespread mycobacterial disease in the world after leprosy and tuberculosis. How M. ulcerans is introduced into the skin of humans remains unclear, but it appears that individuals living in the same environment may have different susceptibilities. OBJECTIVES This study aims to determine whether frequent contacts with natura...

In the Arabian Peninsula, high percentages of consanguineous marriages and the tribal nature of marriages have resulted in high incidence of genetically based disorders. The successful management of these disorders incurs a high financial cost, which is a great burden on the health care system. The practical solution to this problem is through prevention. Prevention of genetic disorders should ...

This is the first study of genetic susceptibility to paralytic poliomyelitis in a defined population over more than one epidemic. All 1,072 cases of Maltese with poliomyelitis in the islands of Malta from 1909 to 1964, and baptism matched controls, were traced to their great grand-parents or beyond. All marriages were checked for consanguinity. Many cases were closely related with many consangu...

To the Editor: By studying the frequency of consanguinity among parents of children with cystic fibrosis (CF), Romeo et al. [1] conclude that "CF is homogeneously determined by mutations at a single gene in Italy," although the authors leave open the possibility of a very minor, second form. Such a conclusion would be of great importance if correct. Recent discoveries of linkage among CF, a DNA...

Reciprocal translocations represent one of the most common structural rearrangements observed in humans. Estimates of the population frequency range from 1/673 to 1/1000. We have described two novel balanced translocations in two unrelated families who experienced Recurrent spontaneous abortions (RSA) following their separate non-consanguineous marriages. Initial cytogenetic studies were perfor...

In a population practicing consanguineous marriage, rare recessive lethal alleles (RRLA) have higher chances of affecting phenotypes. As inbreeding causes more homozygosity and subsequently more deaths, the loss of individuals with RRLA decreases the frequency of these alleles. Although this phenomenon is well studied in general, here some hitherto unstudied cases are presented. An analytical f...

Molecular diagnosis of human disorders is referred to as the detection of the various pathogenic mutations in DNA and/or RNA samples in order to facilitate detection, diagnosis, sub-classification, prognosis, and monitoring response to therapy. The use of molecular biology techniques to expand scientific knowledge of the natural history of diseases, identify people who are at risk for acquiring...