التفاصيل البيبلوغرافية
| العنوان: |
ORIGINEA PARENTALĂ A CROMOZOMULUI X ÎN SINDROMUL TURNER. |
| العنوان البديل: |
PARENTAL ORIGIN OF X CHROMOSOME IN TURNER SYNDROME. |
| المؤلفون: |
Miclea, Diana1 bolca12diana@yahoo.com, Carel, Jean-Claude1, Grigorescu-Sido, Paula1, Pop, Ioan Victor1 |
| المصدر: |
Clujul Medical. Jun2011, Vol. 84 Issue 2, p53-57. 5p. 1 Diagram, 1 Chart, 1 Graph. |
| مصطلحات موضوعية: |
*X chromosome, *TURNER'S syndrome, *QUALITATIVE research, *GENOTYPE-environment interaction |
| الملخص (بالإنجليزية): |
Introduction. X chromosome imprinting is presumed to explain the phenoypic variability in Turner syndrome and also some phenotypic features, specifics for each sex. The patients with Turner syndrome have only one X, maternal (XM) or paternal (XP), thus representing a unique clinical model in which may be observed the phenotypic influence of X genes, related to the parental origin. Aim. Determination of the parental origin of X chromosome at patients with homogeneous X monosomy, with the purpose to correlate this with the phenotype. Patients and method. 42 patients (and their mothers), diagnosed with homogeneous 45,X karyotype, were included in the study. By FISH analysis, the patients with undetected mosaics by classical karyotype have been excluded from the group. The parental origin of X was determined by the study of 9 microsatellites, by comparing the length of the mother-daughter alleles. Results. From 42 couples mother-daughter analyzed, the parental origin of X was established in 38 couples, thus: 26 (68%) patients presented XM and 12 (32%) XP. Conclusions. In this study it was used the microsatellites analysis to establish the parental origin of the X chromosome. The 2:1 distribution of the genotypes which have maternal or paternal X is presumed to be that the mother has two X chromosomes to contribute in chromosomal constitution of the descendent and the father has only one X chromosome. From this observation, it will be further analyzed the correlation with the phenotype, thus trying to explain a clinical signification for the X chromosome imprinting. [ABSTRACT FROM AUTHOR] |
| Abstract (Romanian): |
Introducere. Imprintarea cromozomului X se presupune că ar fi responsabilă de variabilitatea fenotipică din sindromul Turner, precum şi de anumite diferenţe fenotipice dintre cele două sexe (talia, cogniţia socială, metabolismul lipidic). Pacientele cu sindrom Turner au doar un X, matern (XM) sau patern (XP), reprezentând astfel un model clinic unic în care se poate observa influenţa fenotipică a genelor de pe X în funcţie de originea parentală. Obiectiv. Identificarea originii parentale a cromozomului X la pacientele cu sindrom Turner, în scopul corelării acesteia cu fenotipul. Material şi metodă. Au fost incluse în studiu 42 paciente (şi mamele lor) diagnosticate cu cariotip 45,X omogen. Prin analiza FISH, au fost excluse din lot pacientele cu mozaicisme nedetectabile prin tehnicile clasice de cariotipare. Originea parentală a cromozomului X a fost determinată prin studiul a 9 microsateliţi, prin compararea taliei alelelor mamă-fiică. Rezultate. Din 42 cupluri mamă-fiică analizate, s-a stabilit originea parentală a cromozomului X la 38 cupluri, astfel: 26 (68%) paciente prezentau XM şi 12 (32%) XP. Concluzii. În acest studiu am folosit analiza microsateliţilor pentru a determina originea parentală a cromozomului X. Această distribuţie de 2:1 a genotipurilor care conţin X matern sau X patern ar putea fi explicată prin faptul că mama are doi cromozomi X pentru a contribui la constituţia cromozomială a descendentului, în timp ce tatăl are doar un cromozom X. Pornind de la această constatare vom analiza corelaţiile cu fenotipul, încercând astfel stabilirea unei semnificaţii clinice a imprintării cromozomului X. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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