Detection of Hpdel in healthy individuals and cancer patients in Taiwan.
BACKGROUND
We investigated the genotypic distribution of Hp(del) in healthy subjects and cancer patients in Taiwan.


METHODS
Blood samples were collected from 244 randomly selected healthy Taiwanese volunteers and 737 patients with various cancers. Samples were analyzed for the haptoglobin (Hp) gene, and the presence of the Hp(del) allele was determined from genomic DNA by an Hp(del)-specific polymerase chain reaction (PCR) method. The plasma concentration of Hp was also determined.


RESULTS
The frequency of the Hp(del) allele was calculated to be 0.029, and was not different between the healthy subjects and patients with cancer. The prevalence of Hp deficiency caused by Hp(del) homozygosity was estimated to be approximately 0.85 in 1000. Fifty-seven subjects were reclassified from homozygous Hp(1) or Hp(2) to Hp(1)/Hp(del) or Hp(2)/Hp(del) genotypes. The Hp(del) allele is not associated with prevalence, severity or stage of any cancer.


CONCLUSIONS
Congenital Hp deficiency caused by Hp(del) homozygosity is a condition present in Taiwan with a relatively high frequency. However, the Hp(del) variant does not play a role in cancer.
Su
Yu-Chieh
YC
Division of Hematology-Oncology, Department of Internal Medicine, Buddhist Dalin Tzu Chi General Hospital, Dalin Town, Chiayi County, Taiwan, Republic of China. hepatoma@ms3.hinet.net
Chen
Yi-Chun
YC
Li
Szu-Chin
SC
Lee
Ching-Chih
CC
Tung
Ya-Ting
YT
D044466:Asian People; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006242:Haptoglobins / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D009369:Neoplasms / Q000097:blood / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D013624:Taiwan
C485359:HP protein, human; D006242:Haptoglobins; D004247:DNA