![Fig. 1. Genomic structure of PIK3CG, FISH, and mutation analysis. / (A) Simplified diagram illustrating the genomic structure ofPIK3CG and areas within the coding sequence that encode the different p110γ domains. RBD indicates Ras binding domain. The table provides exact information on the exon/intron boundaries within genomic sequence (BAC GS223D04) starting with the first ATG of the open reading frame. (B) BACs RG126M09 (ORC5L) and GS223D04(PI3KCG) were labeled with digoxigenin and detected with rhodamine-conjugated antidigoxigenin antibodies; BAC CTB-152G17(SRPK2) was labeled with biotin and detected with fluorescein-conjugated avidin. In each nucleus, the signal forSRPK2 (green) is located between the signals for the other 2 BACs (red). Nuclei are counterstained with 4,6-diamidino-2-phenylindole-dihydrochloride. (C) Autoradiography showing the SSCP results with the intronic primers flanking exon 6. Arrows indicate normal bands. Leukemias L1 and L2 showed abnormal bands that were inherited in both cases. M indicates mother; F, father). (D) Electropherogram showing the underlying genetic variation ACT>GCT [Thr→Ala] in codon 859 ofPIK3CG.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/99/1/10.1182_blood.v99.1.372/6/h80121933001.jpeg?Expires=1724234031&Signature=ZdRZ8gNDju-SWAJFDQGoRZEtvJ6HEOV6xlgiuboMyT7TnVGY3kMsD0ca7S7XsNuSqRGEEjHygs-~kmh4hABcY5YknuTo655SGM6tLSe9w78Jv6~-kbKbHhfkLTGnAUkzvIOnnDQnF7TjT3CcBI~~OFTHayFuVsHVrneMW-wO3IcJhfvYNjJP4TI29oi0RN~hule-7dXik60o3OzlcsQe2L0VjSekNOvIGOdzsouZkGCviH04UwcEafQwcNvSAGtiIDL2dPHJOefnJgzuEU8UWit~i6vtZZjADK1NAkYLX8rn15f8rRJ-jyMVH15srOUIsdsYaiRn9E3qf~VmwhEeZw__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
Genomic structure of PIK3CG, FISH, and mutation analysis.
(A) Simplified diagram illustrating the genomic structure ofPIK3CG and areas within the coding sequence that encode the different p110γ domains. RBD indicates Ras binding domain. The table provides exact information on the exon/intron boundaries within genomic sequence (BAC GS223D04) starting with the first ATG of the open reading frame. (B) BACs RG126M09 (ORC5L) and GS223D04(PI3KCG) were labeled with digoxigenin and detected with rhodamine-conjugated antidigoxigenin antibodies; BAC CTB-152G17(SRPK2) was labeled with biotin and detected with fluorescein-conjugated avidin. In each nucleus, the signal forSRPK2 (green) is located between the signals for the other 2 BACs (red). Nuclei are counterstained with 4,6-diamidino-2-phenylindole-dihydrochloride. (C) Autoradiography showing the SSCP results with the intronic primers flanking exon 6. Arrows indicate normal bands. Leukemias L1 and L2 showed abnormal bands that were inherited in both cases. M indicates mother; F, father). (D) Electropherogram showing the underlying genetic variation ACT>GCT [Thr→Ala] in codon 859 ofPIK3CG.
