2.Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42.
Ying REN ; Yuqiang LYU ; Jian MA ; Dong WANG ; Guangye ZHANG ; Yi LIU ; Zhongtao GAI
Chinese Journal of Medical Genetics 2021;38(6):565-568
OBJECTIVE:
To explore the genetic basis for a child featuring global developmental delay.
METHODS:
DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.
RESULTS:
A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.
CONCLUSION
The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Arthrogryposis
;
Child
;
Family
;
GTP-Binding Protein beta Subunits
;
Heterozygote
;
Humans
;
Intellectual Disability/genetics*
;
Whole Exome Sequencing
3.Effects of clonidine on myocardial Gs alpha mRNA expression after scalds in rats.
Acta Pharmaceutica Sinica 2002;37(1):19-22
AIMTo explore the role of clonidine (Clo) on myocardial Gs alpha mRNA expression after scalds in rats.
METHODSA 30% skin-full-thickness scald was produced by immersing rats in 95 degrees C water for 10 s. The myocardial Gs alpha mRNA expression level, cyclic AMP content and adenylyl cyclase (AC) activity were determined with dot blotting hybridization, in situ hybridization, radioimmunoassay and indirect method.
RESULTSThree hours after scalds, the myocardial Gs alpha mRNA was significantly decreased to (61 +/- 20)% of the control group (P < 0.01). AC activity and cAMP content were also decreased. Clo (0.3, 1.0 and 3.0 mg.kg-1, i.p.) was shown to increase myocardial Gs alpha mRNA expression level (P < 0.01 or P < 0.05) after scalds to (131 +/- 28)%, (142 +/- 51)% and (139 +/- 48)% of the scald group, respectively, which were correlated with the Clo dose (gamma = 0.597, P < 0.05). Clo 1.0 mg.kg-1 and 3.0 mg.kg-1 (i.p.) promoted AC activity and increased cAMP content, but Clo 0.3 and 0.1 mg.kg-1 showed no significant effect (P > 0.05). Selective I1-imidazoline receptor antagonist efaroxan (Efa) (10, 5 mg.kg-1, i.p.) was found to partially reverse the effect of Clo, while Efa 2.5 mg.kg-1 showed no significantly influence. The reduced quantity of Gs alpha mRNA expression level correlated well with the Efa dose (gamma = 0.900, P < 0.05). The change of AC and cAMP was similar to Gs alpha mRNA.
CONCLUSIONClo increased the myocardial Gs alpha mRNA expression, AC activity and cAMP content after scalds in rats.
Adenylyl Cyclases ; metabolism ; Adrenergic beta-Agonists ; pharmacology ; Animals ; Burns ; metabolism ; Clonidine ; pharmacology ; Cyclic AMP ; metabolism ; Dose-Response Relationship, Drug ; GTP-Binding Protein alpha Subunits, Gs ; biosynthesis ; genetics ; Gene Expression ; drug effects ; Heart ; drug effects ; Male ; Myocardium ; metabolism ; RNA, Messenger ; biosynthesis ; drug effects ; Random Allocation ; Rats ; Rats, Wistar
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