The contribution of assays for lymphocyte capping and creatine kinase to detection of the Becker-type dystrophy trait.

نویسندگان

  • B M Goldsmith
  • H D Gruemer
  • R J Hawley
  • N A Pickard
  • H L Verrill
  • W E Nance
  • G Miller
  • R G Crawford
چکیده

Members of three unrelated families with the mild Becker type of muscular dystrophy were subjected to lymphocyte capping tests and measurements of serum creatine kinase activity. Both tests correctly identified all nine affected males, but only the capping test was abnormal in seven of eight obligate carriers. The number of capped cells in carriers and affected persons with the Becker-type dystrophy was generally intermediate between those observed for individuals with the Duchenne trait and normal controls, thus potentially aiding in the differential diagnosis between the two myopathies. The lack of sensitivity of measurements of serum creatine kinase activity in identifying carriers is further complicated by the difficulty of establishing reliable reference intervals for this enzyme in 204 healthy controls. Detailed directions for the performance of the capping test are presented.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The Diagnostic Value of Utrophin in Mild Dystrophinopathy (Becker Muscular Dystrophy)

  Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major...

متن کامل

Carrier detection in Duchenne muscular dystrophy.

Serum creatine kinase, myoglobin, and percentage lymphocyte capping was determined in ten patients with Duchenne muscular dystrophy, 12 carriers (nine definite and three probable), 16 other female relatives, and eight normal controls. There was no detectable difference in lymphocyte capping ability between any of these clinical groups. Significant myoglobinaemia was present in all the affected ...

متن کامل

Detection of carriers of benign X-linked muscular dystrophy.

From the point of view of genetic counselling carrier detection is most important in X-linked disorders. Okinaka et al. (1959) were the first to employ the serum level of creatine kinase to detect female carriers of X-linked Duchenne muscular dystrophy. Since then many investigators have confirmed the usefulness and reliability of this test. So far results on over 200 carriers have been reporte...

متن کامل

In vitro Effect of Lead, Silver, Tin, Mercury, Indium and Bismuth on Human Sperm Creatine Kinase Activity: a Presumable Mechanism for Men Infertility

Background: The aim of the present study was to investigate the in vitro effects of mercury (Hg+2), lead (Pb+2), silver (Ag+2), tin (Sn+2), bismuth (Bi+3) and indium (In+3) ions on sperm creatine kinase. Methods: creatine kinase was isolated from human sperm homogenates after chromatography on a DEAE cellulose column. Results: At 60 µg ml-1 metal concentration, 70% of the creatine kinase activi...

متن کامل

The detection of carriers of benign (Becker-type) X-linked muscular dystrophy.

The use of serum creatine kinase (SCK) estimations in the detection of female carriers of the severe (Duchenne-type) X-linked muscular dystrophy was first introduced by Okinaka and his colleagues in 1959, and since then the value of this test has been confirmed by many others (Dreyfus and Schapira, 1961; Hughes, 1963; Richterich, et al, 1963; Emery, 1965; Rotthauwe and Kowalewski, 1965; Wilson,...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Clinical chemistry

دوره 26 6  شماره 

صفحات  -

تاریخ انتشار 1980