杂合子

• To investigate the distribution of gene mutations in lpl and to study the relationship between lpl mutations and plasma lipid , the lpl gene ( exon5 ~ 9 including intron - exon boundaries ) was examined by pcr - sscp analysis , and the amplified products showing abnormal pattern on sscp were sequenced using dideoxy - mediated chain - termination
  在外显子5中，检出一杂合子突变，经dna序列测定证实为pro ( 207 ) leu突变杂合子，该患者为高甘油三酯血症病人。