Horrible Mutations

 Ehlers-Danlos  Autosomal  recessive

Extreme  fragility  of  the  skin,  other  symptoms  include  blue sclerae  and  soft,  velvety,  hyperextensible  skin.  Marked  bruising  and  open  wounds following  minor  trauma,  the  excised  skin  can  be  torn  by  hand.   Epidemiology: The  disease  has  been  diagnosed  among  in  several  Ashkenazi  Jewish  families  In  one family  in  which  the  origin  was  determined  the  grand  parents  were  from  Belarus Molecular  genetics: ADAMTS2    gene  (chromosomal  locus  5q23)   Homozygozity  for  the  same  mutation  [Q225X]  was  found  in  all  the  Ashkenazi  Jewish patients.  Wiki says life expectancy is normal. Pic.: The wiki, from Premalatha S, Sarveswari et al. 

Fragile  X  syndrome 

94 X linked  dominant FMR1 gene  (chromosomal  locus  Xq27)   The  disorder  is  caused  by  the  absence  of  the  FMR1  product,  almost  always  as  a  result of  a  CGG  repeat  unit  amplification  (>  200  repeats),  rarely  because  of  a  mutation  in  the gene.   Epidemiology: Among    the  cases  of  fragile  X  syndrome  in  Israel  published  in  1997  it  was  apparent that  the  disorder  is  relatively  frequent  among  Jews  of  Tunisian  origin.  In  the  136 pedigrees  surveyed  at  the  time,  36  (26.4%)  were  of  Tunisian  Jewish  origin.  In  a  Tunisian  Jewish  control  group  4  were  carriers  of  the  fragile  X  mutation (3  premutation,  one  full  mutation).  Studying  the  Tunisian  Jewish  chromosomes  with the  mutation,  there  was  an  unusually  high  proportion  (20%)  that  completely  devoid AGG interruption.  The  largest  of  these  uninterrupted  alleles  was  found  on  a  unique haplotypes  suggesting  a  founder  effect  that  may  be  originating  from  the  Island  of Djerba. In  several  screening  programs  performed  among  Jews  in  Israel  the  incidence  of  the disorder  was  found  to  be  1:3000.  The  carrier  frequency  (more  55  repeats)  was approximately  1:150.  

From the wiki: Fragile X syndrome has traditionally been considered an X-linked recessive condition with variable expressivity and possibly reduced penetrance.^[12] However, due to genetic anticipation and X-inactivation in females, the inheritance of Fragile X syndrome does not follow the usual pattern of X-linked dominant inheritance, and some scholars have suggested discontinuing labeling X-linked disorders as dominant or recessive.^[40] Females with full FMR1 mutations may have a milder phenotype than males due to variability in X-inactivation.^{[citation needed]}

Before the FMR1 gene was discovered, analysis of pedigrees showed the presence of male carriers who were asymptomatic, with their grandchildren affected by the condition at a higher rate than their siblings suggesting that genetic anticipation was occurring.^[13] This tendency for future generations to be affected at a higher frequency became known as the Sherman paradox after its description in 1985.^[13][41] Due to this, male children often have a greater degree of symptoms than their mothers.^[42]

The explanation for this phenomenon is that male carriers pass on their premutation to all of their daughters, with the length of the FMR1 CGG repeat typically not increasing during meiosis, the cell division that is required to produce sperm.^[13][29] Incidentally, males with a full mutation only pass on premutations to their daughters.^[29] However, females with a full mutation are able to pass this full mutation on, so theoretically there is a 50% chance that a child will be affected.^[29][36] In addition, the length of the CGG repeat frequently does increase during meiosis in female premutation carriers due to instability and so, depending on the length of their premutation, they may pass on a full mutation to their children who will then be affected. Repeat expansion is considered to be a consequence of strand slippage either during DNA replication or DNA repair synthesis.^[43]

 Samaritan  myopathy

 Autosomal  recessive. In  contrast  to  other  congenital  myopathies  where  muscle  weakness  is  progressive  or stable  the  benign  Samaritan  congenital  myopathy  is  characterized  by  an  ‘‘inverse’’ course  of  disease.  The  patients  are  severely  affected  at  birth  and  improve  progressively being  minimally  affected  at  adult  stage.   Epidemiology  and  Molecular  genetics: RYR1  gene  (chromosomal  locus  19q13.1) The  diaese  was  reported  in  one  Samaritan  family  in  which  the  patients  were homozygous  for  c.3263A>G  (p.Tyr1088Cys).    The  Samaritans  are  an  ethno-religious group  of  741  people  living  in  Israel  and  Nablus.  Ancestrally,  they  consider  themselves as  descendants  of  the  10  lost  tribes  that  formed  the  Kingdom  of  Israel.  The  Samaritan population  has  the  highest  recorded  inbreeding  coefficient  in  human  populations  due to  almost  exclusive  intra-lineage  marriages.  

I am doomed

I have to reduce my weight by some 30 kg to survive a little more. I did it more than once but always gained back the fat loss and some more. Mood: Fakir-esque. Depressed. 

"Bassa"

 

Bassa means swamp or just depression in the Hebrew/Arabic lingo we speak here. I am a bit depressed because it was discovered that I suffer from BP.

Dear Wife is angry. She says that I don't see her. That no one sees her. She has chronic backache. I am trying to be nice to her. 

Persia

TAHAL worked in Iran till the fall of the Shah and I remember that in the general assembly of that year, the employees that escaped were celebrated. I talked with the agricultural - irrigation experts and they had a rather poor opinion of the local farmers. Iran, then, was considered underdeveloped. 

Now they are saying they will burn Tel Aviv and Haifa. One paper even published a map with the targets - it includes Hebron and Ramallah. It is part of the negotiations in Vienna, which seem to go well. The Brits, this time, are with us: 

 "This is the last chance for Iran to come to the negotiating table with a serious resolution to this issue, which has to be agreeing to the terms of the JCPOA," said Truss, adding, "This is their last chance and it is vital that they do so. We will not allow Iran to acquire a nuclear weapon."

A line in the sand

 I bought Barr's book and I painfully am reading it. It is long, detailed, and complicated. It tells the seventy years of English (and French) conflict in the Middle East to divide the Turkish possessions after WWI. The English intelligence officer, the faintly feminine T.E. Lawrence created the Arab national movement (paying off lots of gold) which twenty years later the Brits had to put down (more gold and 100,000 "rations" = soldiers). They still subsidize the Kingdom of Jordan, to keep Lawrence's promise of a kingdom for Faisal and Abdullah. 

It is rather surprising the difficulties of the British (and French) armies in eliminating irregular Arab forces in Syria, Lebanon, and of course Palestine. Israel, once established, fought against the same forces and, apparently without too much effort, Ariel Sharon (*) conquered Beirut in two days and we ruled South Lebanon for a decade. I don't know the secret but we are different.     

(*) and moi. I was there. 

Commenter TIM in Amazon resumes: None of the actors come out of this well. The squabbling, fading empires of France and Britain are at the heart of it all, both obsessed with maintaining their place in the world at the expense of the Arabs. The Arabs themselves come across as bumbling and incompetent, except for perhaps the Druze and Bedu, but they are all riven by petty infighting that allows the "great powers" to maintain control of their lands. The Zionists come later to the story as ruthless killers and extremists - founding a country, etc.  

Amira's Honor

 سبحان الله !....الشعب الفلسطيني المسكين المحتل المهجر المشرد المتآمر عليه دوليا و إقليميا و حتى عربيا من طرف بعض الأنظمة العربية المطبعة الخائنة ، وصلت بهم الدرجة التشكيك في "شرف و عرض " الشعب الفلسطيني ! تحياتي لكل شريف فلسطيني  و شريفة

Glory be to God!...the miserable, occupied, displaced Palestinian people, that were conspired against internationally, regionally, and even in the Arab world, by the treacherous media, have reached the low point that its very honor is being questioned! Greetings to every honest and honorable Palestinian! 

The reactions to the Egyptian film Amira have been very emotional. Above is one comment. (The translation is mine). The story is about a prisoner's sperm being smuggled out by a guard, who substitutes the sperm with his own. Since hundreds of children were born this way, the film undermines the honor and the morale of the Palestinians. 

Rotten tomatoes writes:

Amira is a highly contrived, ridiculous melodrama seeping with endless implausible details that rob the story of any credibility it may have had. The biggest crime of the film though is its portrayal of Palestinian society.

The community of Amira - essentially a microcosm of Palestine as the film implies - is a band of freaks: a company of sexist brutes with not an ounce of empathy in their souls. The Palestine of Amira is a conservative, hypocritical place populated by merciless patriarchs only concerned with preserving their honor rather than safeguarding the daughter who grew with them and among them; a daughter who had no hand in the great shame they plaster her with.

This is an insultingly regressive, bafflingly over-simplified, imprudently outdated treatment of a Palestine clearly concocted by an outsider. Its take on identity is shallow and largely underexplored; its depiction of the downgraded status of women in middle-class families is Victorian in essence. At a time when the evolving discourse around women's rights across the region has shifted towards body integrity and equal rights, Diab is still stuck on honor and virginity.

Cultural Origins of Demographic Transition

 

The mystery is perfectly explained in this research paper by Guillaume Blanc, Brown University. It is secularization. Everywhere. Always.