Fakhro (1994) was the first to report a Bahraini patient with adenomatous polyposis coli (APC). The patient was a 43-year-old male complaining of painless bleeding from the rectum for six months and bowel motion of three to four times per day. He had duodenal ulcer one month ago. Tiny polyp was seen above the ano-rectal junction by proctoscopy and multiple polyps were detected in the rectosegmoid region by sigmoidoscopy. Barium enema showed the presence of an extensive colonic polyposis (from the coecum to the rectum and possibly involving the anus). Pathological studies of multiple biopsies showed no evidence of malignancy. The patient was fully continent after a surgical intervention.

[Fakhro AR. Adenomatous polyposis coli (APC). J Bahrain Med Soc. 1994; 6(1):39-40.]

[See also: Palestine > Niell et al., 2003]

[See also: Palestine > Niell et al., 2003]

Niell et al. (2003) tested whether selection has operated on the I1307K allele frequency. They estimated the age of the allele, to understand its origin in the context of the Jewish diasporas and subsequent founder events. They found a common progenitor haplotype spanned across APC I1037K from the centromeric marker D5S135 to the telomeric marker D5S346 and showed that it existed in Sephardi Jews of Syrian, Egyptian, Moroccan, Yemeni, and Palestinian origins, as well as in Muslim and Christian individuals of Arab descent. The ancestor of modern I1307K alleles existed 87.9 to 118 generations ago (approximately 2,200 to 2,950 years ago). Since the conserved I1307K haplotype is shared among Jews and Arabs and that the most recent ancestor of I1307K existed sometime between 947 BCE and 195 BCE, future genetic testing for this polymorphism might be offered to individuals of different ethnic backgrounds.

[See also: Palestine > Niell et al., 2003]

In 1999, Patael et al. analyzed the presence of the I1307K polymorphism in Ashkenazi and Yemenite Jews using denaturing gradient gel electrophoresis (DGGE). They found a common four-marker haplotype (three intragenic markers and a single downstream marker 30-70 Kb from the APC gene - D5S346) containing the I1307K allele in Ashkenazi and Yemenite Jews. The haplotype excluded D5S82, which was found in 23.4% of unselected Yemenite Jews.

Drucker et al. (2000) conducted a study to estimate the prevalence of the I1307K mutation in several ethnic groups and to elucidate the clinical features of the mutation carriers with colorectal carcinoma (CRC). Mutation screening in four consecutive CRC patients of Yemenite origin identified three carriers of the mutation. On the other hand, screening of 189 Yemenites randomly selected from the general population demonstrated the presence of nine individuals carrying the mutation, hence an I1307K carrier frequency in Yemenite Jews of approximately 4.7%.

[See also: Palestine > Niell et al., 2003]