01/10/2023

نوال سليمان الشمري

نوال سليمان الشمري
دكتوراه
الطب والخدمات الصحية
University of Sheffield

مجال
التميز

تميز دراسي و بحثي

 

 

البحوث المنشورة

 

البحث (1):

 

عنوان البحث:

High-Resolution Array CGH Analysis Identifies Regional Deletions
and Amplifications of Chromosome 8 in Uveal Melanoma

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تاريخ النشر:

June 2015

موجز عن البحث:

Purpose.: Monosomy 3 (M3) and abnormalities of chromosome 8 associate
with poor prognosis in uveal melanomas (UM). Although M3 has been the subject
of more in-depth studies, none have intensively focused on chromosome 8. To
elucidate the potential role of chromosome 8 abnormalities, array comparative
genomic hybridization (aCGH) was performed on primary UM.

Methods.: A
specifically-designed custom high-resolution array was developed focusing on
changes most implicated in UM. Probes for chromosome 8 had a mean spacing of
2.3 kb while chromosomes infrequently affected had a mean spacing of 36.6 kb.
A series of 75 UM, including one formalin-fixed paraffin sample were
analyzed, and where possible control DNA extracted from the patient’s own
peripheral blood was used.

Results.: The most common
copy number abnormalities were chromosome 8 (75%) and M3 (51%), with M3 and
gain of the long arm of chromosome 8 (8q+) associated in 41% of cases. Also
identified were partial deletions of chromosome 3 (3%) and regional 8q+
(23%), and the intensive coverage of chromosome 8 revealed small focal
deletions and amplifications affecting both arms. The most significant
predictor of prognosis was M3/8q+ having a hazard ratio of 10.1 (P
< 0.0001).

Conclusions.: Neither 8p
deletion nor focal changes affecting chromosome 8 were linked to outcome. The
most significant indicator was M3/8q, and multiple 8q+ associated with
shorter survival. Studying UM with this technology provides a powerful robust
tool for predicting prognosis while considering other genetic changes,
allowing the future incorporation of such data as it becomes clinically
significant.

البحث (2):

 

عنوان البحث:

Identification and characterisation of mutations associated with
von Willebrand disease in a Turkish patient cohort

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here

تاريخ النشر:

01/08/2013

موجز عن البحث:

Several cohort
studies have investigated the molecular basis of von
Willebrand disease (VWD); however, these have mostly focused on
European and North American populations. This study aimed to investigate
mutation spectrum in 26 index cases (IC) from Turkey diagnosed with all three
VWD types, the majority (73%) with parents who were knowingly related. IC
were screened for mutations using multiplex ligation-dependent probe
amplification and analysis of all von Willebrand
factor gene (VWF) exons and exon/intron boundaries. Selected missense
mutations were expressed in vitro. Candidate VWF mutations were identified in
25 of 26 IC and included propeptide missense mutations in four IC (two
resulting in type 1 and two in recessive 2A), all influencing VWF expression
in vitro. Four missense mutations, a nonsense mutation and a small in-frame
insertion resulting in type 2A were also identified. Of 15 type 3 VWD IC, 13
were homozygous and two compound heterozygous for 14 candidate mutations
predicted to result in lack of expression and two propeptide missense
changes. Identification of intronic breakpoints of an exon 17-18 deletion
suggested that the mutation resulted from non-homologous end joining. This
study provides further insight into the pathogenesis of VWD in a population
with a high degree of consanguineous partnerships.

 

 

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