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Glossary

X-linked inheritance

A is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed (1) in males (who are necessarily hemizygous for the gene mutation because they have only one X chromosome) and (2) in females who are homozygous for the gene mutation (i.e., they have a copy of the gene mutation on each of their two X chromosomes).

 

 



Articles using this Glossary Item

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RNA editing tools could create new disease therapies

30 October 2017 - by Dr Rachel Huddart

A new molecular tool to change individual letters in an RNA sequence may open up new possibilities for gene therapy... [Read More]

Radio Review: One to One - Jane Hill meets Caroline Harding

05 June 2017 - by Arit Udoh

The first of two episodes of the One-to-One programme about people from families affected by genetic diseases: exploring the emotional impact of a family member's diagnosis and how relatives decide whether or not to find out if the condition will also affect them... [Read More]

First human trial of gene therapy for Fabry disease

17 February 2017 - by Dr Molly Godfrey

A Canadian man with Fabry disease – a rare, inherited enzyme deficiency – is the first person to be given gene therapy for the condition... [Read More]

CRISPR corrects mutation that causes blindness

01 February 2016 - by Kulraj Singh Bhangra

Researchers have used the CRISPR/Cas9 genome-editing technique to correct a genetic mutation that causes blindness... [Read More]

Radio Review: One to One - Jane Hill Meets Caroline Harding

28 April 2014 - by Amy Reed

In two poignant interviews for the One to One series on BBC Radio 4, Jane Hill first meets mother of three, Caroline Harding. Caroline has not one, but two children with the genetic disorder, hypohidrotic ectodermal dysplasia (HED).... [Read More]

Gene therapy looking good for inherited blindness

16 January 2014 - by Siobhan Chan

Gene therapy for an eye condition called choroideremia is safe and has improved the vision of six patients, says a study in the Lancet... [Read More]

'Female chromosome' might make a man a man

29 July 2013 - by Clara Salice

The 'female' X chromosome has been shown to contain several genes that may be involved in sperm production... [Read More]

Wealthy couples flock to USA to avoid UK sex selection ban, IVF medic claims

03 September 2012 - by Ayesha Ahmad

Dr Jeffrey Steinberg, a British IVF specialist who is now director of a pair of private clinics in the USA has claimed that dozens of couples see him every year to select the sex of their babies... [Read More]

Book Review: Ethical Problems and Genetics Practice

23 July 2012 - by Dr Morven Shearer

One of the difficulties in teaching medical students about the ethics of clinical genetics is that it's often hard to get them to appreciate the multitude of problems raised in everyday practice... [Read More]

Gene therapy beneficial but not permanent in serious immune disorder

05 March 2012 - by Ayesha Jadoon

Early trials in patients with chronic granulomatous disorder (x-CGD), a recessive X-linked condition that affects the immune system, have shown signs of success following the use of gene therapy. The observed boost in immunity of those undergoing treatment was only temporary, however, and the faulty gene causing x-CGD was not corrected permanently.... [Read More]

Gene therapy breakthrough for blood-clotting disease

19 December 2011 - by Dr Zara Mahmoud

Scientists have successfully used gene therapy to alleviate the symptoms of the blood disease haemophilia B in six human volunteers, raising hope for a potential cure. The study has been hailed as a landmark trial for gene therapy... [Read More]

New software successfully identifies rare disease gene

27 June 2011 - by Chris Chatterton

US scientists have been able to identify the gene responsible for an extremely rare X-linked genetic disorder in record time, using new computer software.... [Read More]

New PGD technology guidelines published for the genetic testing of IVF embryos

01 November 2010 - by MacKenna Roberts

The European Society of Human Reproduction and Embryology (ESHRE) has published an updated set of best practice guidelines for fertility clinics on the use of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) techniques... [Read More]

Celebrating 20 years of preimplantation genetic diagnosis

23 July 2010 - by Professor Alan Handyside

At the beginning of this month, following the European Society for Human Reproduction and Embryology (ESHRE) annual meeting in Rome, a workshop was held to celebrate 20 years of preimplantation genetic diagnosis (PGD)... [Read More]

Dialogue around cousin marriage is a positive step, but it must be based on fact not fiction

22 March 2010 - by Professor Marcus Pembrey

A report and analysis promoting Baroness Ruth Deech's views on cousin marriage, published in the Times newspaper on Saturday, makes some serious errors and does nothing to either clarify the true health impact of cousin marriage or help couples at risk of recessive genetic conditions... [Read More]

Families with monogenic disease

30 November 2009 - by Rosie Beauchamp

On Wednesday 18th November 2009 a Progress Educational Trust (PET) conference - 'Does Genetics Matter? Help Hype and the New Horizon of Epigenetics' - was held at Clifford Chance in Canary Wharf. The initial session of the day was called 'Families with Monogenetic Disease' and was chaired by Dr Christine Patch, Chair of the British Society for Human Genetics and Consultant Genetic Counsellor and Manager at Guy's Hospital.... [Read More]

Progress in free fetal DNA (ffDNA)-based prenatal tests

15 September 2008 - by Tessa Homfray

The holy grail of prenatal diagnosis has been the identification of chromosome and single gene abnormalities through maternal blood sampling. This would allow safe accurate prenatal diagnosis, requiring much lower operator skills, and automation is potentially possible, making it cost-effective. In contrast, standard prenatal screening involves ultrasound and biochemical risk... [Read More]

Boy in UK gene therapy trial develops leukaemia

07 January 2008 - by Stuart Scott

A boy enrolled on a pioneering gene therapy trial has developed leukaemia, his doctors based at London's Great Ormond Street Hospital have announced. The three-year-old was of one of 10 patients treated for X-SCID: a genetic disorder whereby a mutation in the IL2RG gene leaves carriers without... [Read More]

Good news for medical research from Norway

20 February 2007 - by Professor Jan Helge Solbakk

NorwayÕs double morality stand on IVF and stem cell research may be on its way to being overturned by the present coalition government. For two decades, Norway has been profiting from IVF-related research on fertilised eggs performed elsewhere to build up its own IVF treatment practices. The research ban on... [Read More]

Healthy twins born after new embryo test

20 November 2006 - by Dr Jess Buxton

The first babies to be conceived following the use of a new embryo testing technique have been born in the UK. Twins Freddie and Thomas Greenstreet were born at Guy's Hospital, London, after their parents used a procedure called preimplantation genetic haplotyping (PGH) to identify IVF... [Read More]

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