propositus

1. The propositus was a young man of Li ethnic group, belonging to heterozygote.
   先证者为黎族男青年，属杂合子。
2. All of the nine exons and intron-exon boundaries of protein C gene of the propositus were analyzed by direct sequencing of the corresponding amplified PCR products in DNA from the propositus.
   用PCR法对先证者PC基因的9个外显子及其侧翼、内含子2序列进行扩增，PCR产物纯化后直接测序，检测其基因突变。
3. Results: Phenotype diagnosis revealed that the propositus was of severe HA while his sister had normal F ⅷ: C.
   结果：表型检测证明先证者为重型HA，其妹妹FⅧ：C正常；
4. Of six members in this family screened for this type of HPFH deletion, four were positive. Prenatal diagnosis of the fetus showed the same results as that of the propositus.
   在此基础上，我们对该家庭的中间型地贫高风险胎儿进行了产前基因诊断，结果显示胎儿的基因型与先证者完全相同，为HPFH和β地贫双重杂合子，故建议终止妊娠。
5. All of the seven exons and intron-exon boundaries of AT gene were analysed by polymerase chain reaction ( PCR) and direct sequencing of amplified PCR products from the propositus.
   用聚合酶链反应（PCR）对先证者AT基因的7个外显子及其侧翼内含子序列进行扩增，PCR产物纯化后直接测序，检测其基因突变（His369Arg），为国际首次报道。
6. By PCR-SSCP analysis, 17 PCR products were identified with different mobility of single strand DNA in propositus. 9 suspectable mutations were revealed with DNA sequencing analysis.
   PCR-SSCP分析发现17个外显子PCR产物单链DNA迁移率异常，通过DNA直接测序发现9个外显子可疑突变，但反向测序均未能证实。
7. Method: 1 Family members from a four-generation-SPD pedigree in Pingyang, Hebei Province were defined as subjects with a total of 10 members including the propositus in the pedigree enrolled.
   方法：1研究对象为中国山西阳泉的一个累及四代家庭成员的SPD家系，受试对象为包括先证者在内的10名家系成员。

noun

1. the person immediately affected by or concerned with an action