Macdonald F, Hulten M, et al. Genotype-phenotype correlation of constitutional. APC gene mutation and CHRPE expression in familial adenomatous polyposis.
ORIGINAL ARTICLES
9. Morton DC, Gibson J. Macdonald F, et al. Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous pol~'posis. Br J SUTg
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10. Olswhwang S, Trret A. laurent-Puig P, Muleris M, Pare R, Thomas G. Restriction of ocular fundus lesions to a specific subgroup of APe mutations in adenomatous polyposis coli patients. Ct'l/1993; 75: 959-968. 11.
\\"allis YL. Macdonald F, Hulten M, et al. Genotype-phenotype correlation of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum Gmt'! 199-1-; 94: 5·G-.5-lS. 12. Grobbelaar H, Ziskind A, de Jong G, Oosthuizen en, Kotze MJ. A novel deletion at codon ~l of the . :\PC gene associated \Vith ophthalmic lesions (CHRPE) in a South African family. I Med Genell996; 33, 348·386. 13. Grobbelaar n, Oosthuizen Cn, Madden ~ Bailey SE. Retief AE Kot:ze MJ. The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africa. S AI' Med 11995; 8S, 269·271. t
FACTORS IN 5-YEAR-OLD URBAN SOUTH AFRICAN CHILDREN THE BIRTH TO TEN STUDY Krisela Steyn, Thea de Wet, Linda Richter, Noel Cameron, aomi S Levitt, Christopher MorrelI
1--t. Grobbelaar JJ, Oosthuizen CJJ, Kotze
MJ. Screening South African familial adenomatous polyposis families for the five-nucleotide deletion at codon 1309 of the APC gene. Mol Ct'fl
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Kotze M}, Grobbelaar JJ, Madden MY. Identification of a novel single base insertion in the adenomatous pol>"posis coli gene. Hum Mutat 1996; 7: 68--69.
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~1iyoshi Y, Ando H, Nagase H, et al. Genn-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992; 89: -1-4524156.
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Kotze M}, Theart L, CalLis M, Peeters AV, Thiart R, Langenhoven E. Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple 10\'\' density lipoprotein receptor gene mutations. peR Methods and Applicatio'IS 1995; 4: 352-356.
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Prosser 1. Condie A, Wrigth M, Horn ]M, Fantes lA, Wyllie AH, Dunlop MC. APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis. 8r I Cancer 1994; 70: 841-846.
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Background. A birth cohort study, the Birth to Ten (BIT) study, commenced in the greater Johannesburg/Soweto metropole in South Africa in 1990. The overall BIT project collected antenatal, birth and early development information on these children as well as information that could help identify factors related to the emergence of risk of cardiovascular diseases (CVDs) in children. Objective. To determine CVD risk profiles and their
determinants in 5-year-old children living in an urban environment in South Africa.
; 78: 151-155.
Hayes MY, Kotze M), Grobbelaar H, Madden MY, Ramesar R Oosthuizen CD· Presymptomatic diagnosis of familial adenomatous polyposiS using intragenic polymorphisms and CA repeat polymorphisms makers flanking the APC gene. Ge1let
Methods. Demographic and birth characteristics were COllUS
1996; 7, 1-7.
23. Ando H, Miyoshi Y, Nagase H, Baba 5, Nakamura Y. Detection of 12 germ-line mutations in the adenomatous polyposis coli gene by polymerase chain reaction. Gastromterology 1993; 1040 989-993.
24. Wallis Y, Macdonald F, Rindl PM, et al. Germline APC mutation familial adenomatous polyposis in an Indian family. Laucet 1992; 340: 1035. Varesco L, Gismondi V, James R, et al. Identification of APe gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis. Am J Hum Genet 1993; 52: 28028.5. 16. Cortel! 5, Bicknell 0, Kaklamarus L, Bodmer WE Molecular analysis of APC mutations in familial adenomatous polyposiS and sporadic colon carcinomas. Lancet 1992; 340: 626-629.
25.
27. Caspari R, Friedl W, Mandl M, et al. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994; 343: 629-632. 28. Distante 5, Nasioulas 5, Somers GR. et al. Familial adenomatous pol}'posis in a .5 year old child: a clinical, pathological, and molecular genetic study. ] Med Genet 1996; 33: 157-160. 29. Dalby S. GIG response to the UK Oinical Genetic Society report 'The genetic testing of children'. ] Med Genet 1995; 32: 490-494. 30. Goldberg PA, Grobbelaar H, Madden MV, et al. Inherited colon cancers (Editorial). 5 Aft Med J 2000; 90: 703 (this issue). 31. Fodde R, van der Luijt R, Wijnen J, et al. Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics1992; 13: 1162-1168.
collected on a sample of 964 5-year-olds whose parents agreed for blood samples to be taken from their children. The children's height and weight were meaSured using standardised procedures; blood pressure (BP) was measured with a Dinamap Vital Signs Monitor, and a nonfasting blood sample was drawn for lipid deterrninations. Wormation on exposure to tobacco smoke and additional health-related data were obtained by interview. Results. No differences were found between the birth weight and gestational age of the 5-year-old CVD pa~ticipants and the remainder of the children studied at birth. The systolic BP was significantly diHerent between ethnic groups, with the BP of the black children significantly higher than that of the Indian and white children, while the diastolic BP of
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