[ English | Bahasa Malaysia ] Today is 5th Apr 2020, 06:25 AM (Last updated: 20th Mar 2020)

Text Red Text Black Text Blue Text Green Text Smaller Text Reset Text Larger

Publication Details
Year :

2013

Journal :

Chai Teng Chear, Harvindar Kaur Gill, Nazatul Haslina Ramly, Jasbir Singh Dhaliwal, Noraini Bujang, Adiratna Mat Ripen and Saharuddin Bin Mohamad (2013). A novel Bruton's Tyrosine Kinase Gene (BTK) invariant splice site mutation in a Malaysian Family with X-Linked Agammaglobulinemia. Asian Pacific Journal Allergy and Immunology 31(4): 320-324

Abstract :

X-linked agammaglobulinemia (XLA) is a rare genetic disorder caused by mutations in the Bruton's tyrosine kinase (BTK) gene. These mutations cause defects in early B cell development. A patient with no circulating B cells and low serum immunoglobulin isotypes was studied as were his mother and sister. Monocyte BTK protein expression was evaluated by flow cytometry. The mutation was determined using PCR and followed by sequencing. Flow cytometry showed the patient lacked BTK protein expression in his monocytes while the mother and sister had 62% and 40% of the monocytes showing BTK protein expressions respectively. The patient had a novel base substitution in the first nucleotide of intron 9 in the BTK gene, and the mutation was IVS9+1G>C. This mutation resulted in exon 9 skipping. This defect rendered the patient susceptible to asthma, failure to thrive, recurrent pyogenic infections, otitis media and bronchopneumonia. His mother and sister were heterozygous for this mutation. The combination of flow cytometry and genetic study is necessary in the diagnosis of X-linked agammaglobulinemia and may be used for subsequent genetic counseling, carrier detection and prenatal diagnosis.

myGOV MAMPU JPA IKU MSC NMMR CRC MyHEALTH MOH Globinmed SPA krste.my

Notice

Logo-SIRIM-n-UKAS-IMR

IMR is a SIRIM accredited organisation (certificate number 2972).

This site is best viewed on Firefox (24.0) with resolution higher than 1280 x 768 pixels.

Our Location

world

Located at Jalan Pahang, 50588 Kuala Lumpur, Malaysia. We operate from 8.00am - 5.00pm Monday - Friday. Click on the map image to launch Google Maps service.

Get in touch with us