x
uploads/proband.jpg

proband n.家譜中發支始祖 (=propositus)。

probang

To study on structure and inheritance of rh d gene interaction between gene expression of rh d and rh c / e and influences on rh d gene expression of inserts and rh box - methods : 20 pairs of oligonucleotide specific primers for exon , intron 2 4 , insert and rh box of rh d , rhc / e gene were designed and composed the polymerase chain reaction - sequence specific oligonucleotide primer ( pcr - ssp ) was used to amplify the rh c / e gene , rh d gene , exon , intron , insert and rh box in 106 samples of unrelated individuals and 7 han nationality ancestries and 5 wei nationality ancestries whose proband were rh d - negative 目的:觀察中國漢族非血緣關系隨機個體、漢族及維吾爾族家系rh血型的c e基因、 d基因外顯子、內含子、插入片段以及rhbox ,研究rhd基因結構及遺傳規律, d基因表達與c e基因的關聯,以及插入片段和rhbox對d基因表達的影響。

In 82 cases of rh d serology negative individuals with rh c / e typing for cc or cc was 20 , of which 9 carried intact exons , 6 carried partial deletion exons , and 5 was total deletion . ( 3 ) inseit fragments and rh box were detected in most of cases in 7 han nationality pedigrees which proband were rh d - negative , and intheritance accorded with the mendel ' s law 檢測82例rhd血清學陰性個體中, c e型為cc或cc有20例,其中完整攜帶rhd基因外顯子者為9例,部分攜帶者為6例,完全缺失者為5例。

The individuals of rhd - positive phenotype with intact exons carried generally insert fragments and boxl box2 and box3 and this proved that inserts or rh box could n ' t affect the express of rh d gene . in 2 of the 5 wei nationality pedigrees whose proband were rh d - negative , rhc / e phenotype of all the rh negative individuals was ccee . rhd exon 4nsert and rh box did not be found in all individuals 在7個先證者為rhd陰性的漢族家系中,大部分成員均出現插入片段和rhbox ,且在遺傳上符合孟德爾遺傳定律, d外顯子完整且表型為rhd陽性的家系個體成員廣泛帶有插入片段和box1 、 box2或box3 ,插入片段或rhbox并未影響d基因的表達。

One missense mutation was found in 48 hypertriglyceridemic patients and identified to be pro207 - leu by sequencing , pedigree analysis of this proband has been carried out and showed that the pro band ' s father is also a carrier of this mutation 征得患者家屬的同意和支持,對其家族三代十人進行了完整的家系分析。家系分析顯示,先證者的突變來自其父親的遺傳。在外顯子6 、 7 、 8中未檢出基因突變。